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Journal articles on the topic 'Hypomimia'
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Khomchenkova, A. A., and S. V. Prokopenko. "Hypomimia and Methods of Its Diagnostics in Patients with Parkinson’s Disease." Doctor.Ru 20, no. 5 (2021): 39–42. http://dx.doi.org/10.31550/1727-2378-2021-20-5-39-42.
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Objective of the Review: To present information of hypomimia manifestations and methods of its diagnostics in patients with Parkinson’s disease (PD) used in scientific trials and clinical practice. Key Points. One of the most significant manifestations of PD is hypomimia. Most commonly, this syndrome is evaluated using the unified PD rating scale which allows analysing patient’s hypomimia subjectively. There are studies which are based on objective methods for computeraided hypomimia diagnostics. Conclusion. To the date, there is insufficient information regarding objective characteristics of hypomimia. The issue of interrelation between hypomimia and generalised hypokinesia and possible cross-correction of these syndromes remains unclear. It is necessary to develop an objective, affordable and simple method for facial expression assessment to be used in routine neurological practice. Keywords: Parkinson’s disease, hypokinesia, mimics, hypomimia, videoanalysis.
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Su, Ge, Bo Lin, Wei Luo, Jianwei Yin, Shuiguang Deng, Honghao Gao, and Renjun Xu. "Hypomimia Recognition in Parkinson’s Disease With Semantic Features." ACM Transactions on Multimedia Computing, Communications, and Applications 17, no. 3s (October 31, 2021): 1–20. http://dx.doi.org/10.1145/3476778.
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Parkinson’s disease is the second most common neurodegenerative disorder, commonly affecting elderly people over the age of 65. As the cardinal manifestation, hypomimia, referred to as impairments in normal facial expressions, stays covert. Even some experienced doctors may miss these subtle changes, especially in a mild stage of this disease. The existing methods for hypomimia recognition are mainly dominated by statistical variable-based methods with the help of traditional machine learning algorithms. Despite the success of recognizing hypomimia, they show a limited accuracy and lack the capability of performing semantic analysis. Therefore, developing a computer-aided diagnostic method for semantically recognizing hypomimia is appealing. In this article, we propose a Semantic Feature based Hypomimia Recognition network , named SFHR-NET , to recognize hypomimia based on facial videos. First, a Semantic Feature Classifier (SF-C) is proposed to adaptively adjust feature maps salient to hypomimia, which leads the encoder and classifier to focus more on areas of hypomimia-interest. In SF-C, the progressive confidence strategy (PCS) ensures more reliable semantic features. Then, a two-stream framework is introduced to fuse the spatial data stream and temporal optical stream, which allows the encoder to semantically and progressively characterize the rigid process of hypomimia. Finally, to improve the interpretability of the model, Gradient-weighted Class Activation Mapping (Grad-CAM) is integrated to generate attention maps that cast our engineered features into hypomimia-interest regions. These highlighted regions provide visual explanations for decisions of our network. Experimental results based on real-world data demonstrate the effectiveness of our method in detecting hypomimia.
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Khomchenkova, Aleksandra A., Semyon V. Prokopenko, and Saikal B. Ismailova. "Clinical aspects of hypomimia in Parkinson’s disease." Neurology Bulletin LIV, no. 1 (April 11, 2022): 45–53. http://dx.doi.org/10.17816/nb89531.
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BACKGROUND. Hypomimia is a distinct symptom of Parkinsons disease manifested by reduced facial expression and slowness of movement in mimic muscles. Clinical aspects of this symptom remain underinvestigated to the date.
AIM. Based on correlation analysis, to determine the association between hypomimia, general manifestations of hypokinesia and the quality of life in patients with Parkinsons disease as well as to evaluate the influence of therapy with L-DOPA pharmaceuticals on hypomimia.
MATERIAL AND METHODS. Clinical aspects of hypomimia were studied in 30 patients with stage 1.53.0 PD according to Hoehn and Yahr Rating Scale. The mean age of the patients was 69. Analysis of hypomimia was carried out using a proprietary method of computer video-analysis of facial muscle movement in performance of 6 tests: smiling, drawing of the letter O, winking, eyebrow raising, frowning and text reading. The gait function was assessed using the laser analyser of kinematic parameters of gait. Mean step length, step time and gait velocity were evaluated. Manifestations of general hypokinesia were analysed via the Unified Parkinsons Disease Rating Scale licensed by the International Parkinson and Movement Disorder Society. Statistical processing of the data was performed using the IBM SPSS Statistics 23 software package. The Wilcoxon test and the Spearmans correlation coefficient were used. The statistical significance level was set at p 0.05.
RESULTS. The correlation between the degree of hypomimia and the severity of general hypokinesia has been confirmed, which determines the prospect in objective analysis of mimics as a possible screening test for general hypokinesia. We have obtained data confirming the association between hypomimia and general hypokinesia: in particular, step time, step length and gait velocity.
CONCLUSION. While using the proprietary method of objective hypomimia diagnosis, we have revealed the presence of correlation between manifestations of hypomimia and general hypokinesia. Additionally, manifestations of hypomimia have been found to decrease against the background of dopaminergic therapy.
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Prokopenko, S. V., A. A. Khomchenkova, V. A. Gurevich, N. A. Butenko, V. A. Kontorin, and A. V. Spirin. "An Objective Method for Assessment of Facial Expression in Patients with Parkinson’s Disease and Healthy Population." Medical University 3, no. 4 (December 1, 2020): 151–54. http://dx.doi.org/10.2478/medu-2020-0018.
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Abstract Hypomimia is a common symptom of Parkinson’s disease. At the present time, issues related to existence of interrelations between hypomimia and manifestations of common hypokinesia remain under-investigated in aspects of both clinical manifestations and rehabilitation efficacy. An objective method for facial muscle movement diagnostics is necessary to achieve this goal. The article presents novel experience in application of a proprietary method using objective facial expression assessment video analysis on the example of a healthy female subject and a female patient with Parkinson’s disease. The Parkinson’s female patient had objective symptoms of hypomimia: a decrease in velocity and amplitude of eyebrow and mouth movement, slow winking. Therefore, application of this method creates prerequisites for more in-depth study of theoretical and clinical aspects in facial expression of Parkinson’s disease patients.
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Bianchini, Edoardo, Domiziana Rinaldi, Marika Alborghetti, Marta Simonelli, Flavia D’Audino, Camilla Onelli, Elena Pegolo, and Francesco E. Pontieri. "The Story behind the Mask: A Narrative Review on Hypomimia in Parkinson’s Disease." Brain Sciences 14, no. 1 (January 22, 2024): 109. http://dx.doi.org/10.3390/brainsci14010109.
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Facial movements are crucial for social and emotional interaction and well-being. Reduced facial expressions (i.e., hypomimia) is a common feature in patients with Parkinson’s disease (PD) and previous studies linked this manifestation to both motor symptoms of the disease and altered emotion recognition and processing. Nevertheless, research on facial motor impairment in PD has been rather scarce and only a limited number of clinical evaluation tools are available, often suffering from poor validation processes and high inter- and intra-rater variability. In recent years, the availability of technology-enhanced quantification methods of facial movements, such as automated video analysis and machine learning application, led to increasing interest in studying hypomimia in PD. In this narrative review, we summarize the current knowledge on pathophysiological hypotheses at the basis of hypomimia in PD, with particular focus on the association between reduced facial expressions and emotional processing and analyze the current evaluation tools and management strategies for this symptom, as well as future research perspectives.
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Khomchenkova, A. A., S. V. Prokopenko, V. A. Gurevich, and P. V. Peresunko. "Diagnosis of hypomimia in Parkinson’s disease." Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 122, no. 11 (2022): 24. http://dx.doi.org/10.17116/jnevro202212211224.
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Khomchenkova, A. A., S. V. Prokopenko, S. B. Ismailova, Yu N. Ashikhmina, and E. S. Denisova. "Correction of Hypomimia Through Activation of Gait Function in Patients with Parkinson`s Disease." Doctor.Ru 22, no. 6 (2023): 78–82. http://dx.doi.org/10.31550/1727-2378-2023-22-6-78-82.
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Aim: To assess the influence of gait function activation on manifestations of hypomimia in patients with Parkinson's disease (PD). Design: A comparative clinical study. Materials and methods. The study enrolled 18 patients with stage of 2–3 PD according to Hoehn — Yahr Rating Scale aged 70 [65; 76] years. Analysis of facial expression in PD patients was analysed by using a proprietary method of computer video-analysis of facial muscle movement. Activation of the gait function used another proprietary method: the apparatus for functional foot therapy that mechanically activates the rear push of the foot at the moment of the lift of the foot from the supporting surface. Results. Activation of the gait function has statistically significantly improved the mimic function of the face, in particular the blink frequency (p = 0.022), eyebrow movement amplitude along the Y axis in the «brow furrow» test (p = 0.048) and the amplitude of mouth movement while reading a text along the axis X (p = 0.012). Conclusion. The confirmation of the decrease of hypomimia manifestations through affecting the condition of general hypokinesia creates the prerequisites for appearance of rehabilitation methods making it possible to perform simultaneously correction of these two symptoms. Keywords: Parkinson’s disease, hypomimia, hypokinesia, gait function activation.
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Pegolo, Elena, Daniele Volpe, Alberto Cucca, Lucia Ricciardi, and Zimi Sawacha. "Quantitative Evaluation of Hypomimia in Parkinson’s Disease: A Face Tracking Approach." Sensors 22, no. 4 (February 10, 2022): 1358. http://dx.doi.org/10.3390/s22041358.
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Parkinson’s disease (PD) is a neurological disorder that mainly affects the motor system. Among other symptoms, hypomimia is considered one of the clinical hallmarks of the disease. Despite its great impact on patients’ quality of life, it remains still under-investigated. The aim of this work is to provide a quantitative index for hypomimia that can distinguish pathological and healthy subjects and that can be used in the classification of emotions. A face tracking algorithm was implemented based on the Facial Action Coding System. A new easy-to-interpret metric (face mobility index, FMI) was defined considering distances between pairs of geometric features and a classification based on this metric was proposed. Comparison was also provided between healthy controls and PD patients. Results of the study suggest that this index can quantify the degree of impairment in PD and can be used in the classification of emotions. Statistically significant differences were observed for all emotions when distances were taken into account, and for happiness and anger when FMI was considered. The best classification results were obtained with Random Forest and kNN according to the AUC metric.
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Ricciardi, L., A. De Angelis, L. Marsili, I. Faiman, P. Pradhan, E. A. Pereira, M. J. Edwards, F. Morgante, and M. Bologna. "Hypomimia in Parkinson’s disease: an axial sign responsive to levodopa." European Journal of Neurology 27, no. 12 (August 20, 2020): 2422–29. http://dx.doi.org/10.1111/ene.14452.
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Dumer, Aleksey I., Harriet Oster, David McCabe, Laura A. Rabin, Jennifer L. Spielman, Lorraine O. Ramig, and Joan C. Borod. "Effects of the Lee Silverman Voice Treatment (LSVT® LOUD) on Hypomimia in Parkinson's Disease." Journal of the International Neuropsychological Society 20, no. 3 (February 13, 2014): 302–12. http://dx.doi.org/10.1017/s1355617714000046.
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AbstractGiven associations between facial movement and voice, the potential of the Lee Silverman Voice Treatment (LSVT) to alleviate decreased facial expressivity, termed hypomimia, in Parkinson's disease (PD) was examined. Fifty-six participants—16 PD participants who underwent LSVT, 12 PD participants who underwent articulation treatment (ARTIC), 17 untreated PD participants, and 11 controls without PD—produced monologues about happy emotional experiences at pre- and post-treatment timepoints (“T1” and “T2,” respectively), 1 month apart. The groups of LSVT, ARTIC, and untreated PD participants were matched on demographic and health status variables. The frequency and variability of facial expressions (Frequency and Variability) observable on 1-min monologue videorecordings were measured using the Facial Action Coding System (FACS). At T1, the Frequency and Variability of participants with PD were significantly lower than those of controls. Frequency and Variability increases of LSVT participants from T1 to T2 were significantly greater than those of ARTIC or untreated participants. Whereas the Frequency and Variability of ARTIC participants at T2 were significantly lower than those of controls, LSVT participants did not significantly differ from controls on these variables at T2. The implications of these findings, which suggest that LSVT reduces parkinsonian hypomimia, for PD-related psychosocial problems are considered. (JINS, 2014, 20, 1–11)
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Su, Ge, Bo Lin, Jianwei Yin, Wei Luo, Renjun Xu, Jie Xu, and Kexiong Dong. "Detection of hypomimia in patients with Parkinson’s disease via smile videos." Annals of Translational Medicine 9, no. 16 (August 2021): 1307. http://dx.doi.org/10.21037/atm-21-3457.
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Pegolo, E., L. Ricciardi, D. Volpe, and Z. Sawacha. "Evaluation of hypomimia in Parkinson's disease using a quantitative face tracking approach." Gait & Posture 90 (October 2021): 178–79. http://dx.doi.org/10.1016/j.gaitpost.2021.09.093.
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Pegolo, Elena, Gloria Boldrini, Lucia Ricciardi, and Zimi Sawacha. "Comparison of two video-based metrics for assessing hypomimia in Parkinson’s disease." Gait & Posture 106 (September 2023): S180—S181. http://dx.doi.org/10.1016/j.gaitpost.2023.07.218.
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Gasca-Salas, Carmen, and Daniele Urso. "Association Between Hypomimia and Mild Cognitive Impairment in De Novo Parkinson’s Disease Patients." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 47, no. 6 (May 14, 2020): 855–57. http://dx.doi.org/10.1017/cjn.2020.93.
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Ricciardi, Lucia, Paola Baggio, Diego Ricciardi, Bruno Morabito, Massimiliano Pomponi, Anna Rita Bentivoglio, Roberto Bernabei, Roberto Maestri, Giuseppe Frazzitta, and Daniele Volpe. "Rehabilitation of hypomimia in Parkinson’s disease: a feasibility study of two different approaches." Neurological Sciences 37, no. 3 (November 21, 2015): 431–36. http://dx.doi.org/10.1007/s10072-015-2421-9.
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Skibińska, Justyna, and Jiri Hosek. "Computerized analysis of hypomimia and hypokinetic dysarthria for improved diagnosis of Parkinson's disease." Heliyon 9, no. 11 (November 2023): e21175. http://dx.doi.org/10.1016/j.heliyon.2023.e21175.
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Gomez, Luis F., Aythami Morales, Julian Fierrez, and Juan Rafael Orozco-Arroyave. "Exploring facial expressions and action unit domains for Parkinson detection." PLOS ONE 18, no. 2 (February 2, 2023): e0281248. http://dx.doi.org/10.1371/journal.pone.0281248.
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Background and objective Patients suffering from Parkinson’s disease (PD) present a reduction in facial movements called hypomimia. In this work, we propose to use machine learning facial expression analysis from face images based on action unit domains to improve PD detection. We propose different domain adaptation techniques to exploit the latest advances in automatic face analysis and face action unit detection. Methods Three different approaches are explored to model facial expressions of PD patients: (i) face analysis using single frame images and also using sequences of images, (ii) transfer learning from face analysis to action units recognition, and (iii) triplet-loss functions to improve the automatic classification between patients and healthy subjects. Results Real face images from PD patients show that it is possible to properly model elicited facial expressions using image sequences (neutral, onset-transition, apex, offset-transition, and neutral) with accuracy improvements of up to 5.5% (from 72.9% to 78.4%) with respect to single-image PD detection. We also show that our proposed action unit domain adaptation provides improvements of up to 8.9% (from 78.4% to 87.3%) with respect to face analysis. Finally, we also show that triplet-loss functions provide improvements of up to 3.6% (from 78.8% to 82.4%) with respect to action unit domain adaptation applied upon models created from scratch. The code of the experiments is available at https://github.com/luisf-gomez/Explorer-FE-AU-in-PD. Conclusions Domain adaptation via transfer learning methods seem to be a promising strategy to model hypomimia in PD patients. Considering the good results and also the fact that only up to five images per participant are considered in each sequence, we believe that this work is a step forward in the development of inexpensive computational systems suitable to model and quantify problems of PD patients in their facial expressions.
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Gewirtz, Alexandra, Sham Mailankody, Saad Usmani, and Bianca Santomasso. "IMMU-45. REVERSIBLE PARKINSONISM AFTER BCMA-DIRECTED CAR T CELL ADMINISTRATION." Neuro-Oncology 25, Supplement_5 (November 1, 2023): v152. http://dx.doi.org/10.1093/neuonc/noad179.0577.
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Abstract B-cell maturation antigen (BCMA)-targeting chimeric antigen receptor (CAR)T cell therapy has revolutionized the treatment of patients with relapsed or refractory multiple myeloma (MM), resulting in FDA-approval of two products, idecabtagene vicleucel (ide-cel) and ciltacabtagene autoleucel (cilta-cel). In addition to immune effector cell associated neurotoxicity syndrome (ICANS), a novel hypokinetic movement disorder resembling parkinsonism has been reported with BCMA-targeting CAR. Cases reported to date have been irreversible or fatal, and guidance on how to manage this complication is limited. Here we describe a patient with MM who developed features of parkinsonism on day 24 post ide-cel infusion which were apparently reversible with supportive care and dexamethasone. A 77 year-old man with MM received standard lymphodepletion followed by ide-cel. He developed grade 1 cytokine release syndrome (CRS) for which he received tociluzumab, followed by transient expressive aphasia (grade 2 ICANS) on day 23. Brain MRI showed no structural abnormality. On day 24 he developed new tremor and gait impairment. Neurologic examination revealed cogwheeling in bilateral wrists, hypomimia, soft speech, and slowed gait. Lumbar puncture and electroencephalogram were unremarkable. FDG-PET brain did not show basal ganglia hypometabolism or abnormal avidity. Lymphocyte percentage was elevated and correlated with a high level of circulating CAR+ T cells. He was started on dexamethasone 10 mg q day, receiving a total of 17 days of steroids with improvement in symptoms. At day 60, ambulation was improved and cogwheeling and hypomimia resolved. By day 90, all neurological symptoms had resolved. Improvement remained sustained as of last follow up day 120. To our knowledge, this is the first case report of steroid responsive parkinsonism after BCMA-CAR therapy. Our report supports close neurological monitoring of patients beyond 30 days after BCMA-CAR and suggests that intervening early in the setting of hypokinetic movement disorders may lead to sustained reversal of symptoms.
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Lim, ECH, E. Wilder-Smith, BKC Ong, and RCS Seet. "Adult-onset Re-emergent Stuttering as a Presentation of Parkinson’s Disease." Annals of the Academy of Medicine, Singapore 34, no. 9 (October 15, 2005): 579–81. http://dx.doi.org/10.47102/annals-acadmedsg.v34n9p579.
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Introduction: The basal ganglia-thalamocortical motor circuits are postulated to play a key role in the aetiopathogenesis of stuttering. The main dysfunction is thought to be an impairment in the ability of the basal ganglia to produce timing cues for the initiation of the next motor segment of speech, explaining the association of acquired and re-emergent stuttering with diseases such as dystonia and Parkinson’s disease. Clinical Picture: We describe a 61-year-old man presenting with re-emergent stuttering and mild hypomimia, only to develop unilateral rest tremors, hypo- and bradykinesia, rigidity and gait difficulties one year later. Treatment and Outcome: His parkinsonism responded well to treatment with bromocriptine, but he continued to stutter. Discussion: This case illustrates the association between acquired or re-emergent stuttering and basal ganglia disorders, and highlights the need to assess such patients for an underlying aetiology.
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Rocha, Ana Luísa, Andreia Costa, Maria Carolina Garrett, and Joana Meireles. "Difficult case of a rare form of familial Alzheimer’s disease with PSEN1 P117L mutation." BMJ Case Reports 11, no. 1 (December 2018): e226664. http://dx.doi.org/10.1136/bcr-2018-226664.
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Less than 10% of Alzheimer’s disease (AD) cases are familial. Presenilin-1 (PSEN1) mutations are the most frequent aetiology and may be associated to atypical neurological manifestations. We report the case of a 27-year-old right-handed man, ensuing with mild cognitive impairment, motor discoordination and axial myoclonus after a parachute accident. At age 32 he was referred to our neurology clinic, presenting cognitive impairment, cerebellar syndrome, axial myoclonus and hypomimia, without other signs of parkinsonism. Because of absence of family history, he was worked up along the line of spinal ataxic disorders. Later, he developed pseudobulbar affect, cognitive deterioration, right upper limb paresis and spastic paraparesis. Subsequent investigation identified a PSEN1 P117L mutation and the diagnosis of autosomal dominant AD was made. This case illustrates the diagnostic challenge imposed by atypical presentation of de novo PSEN1 mutation, leading to unnecessary investigation. Genetic study might be essential for defining the diagnosis.
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Saçmacı, Hikmet, Mustafa Fatih Erkoç, and Tülin Aktürk. "Measurement of the facial nerve thickness and its correlation with freezing phenomenon and hypomimia in Parkinson’s disease." Clinical Neurology and Neurosurgery 210 (November 2021): 106960. http://dx.doi.org/10.1016/j.clineuro.2021.106960.
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Martin, P., B. Rautenstrauβ, A. Abicht, J. Fahrbach, and S. Koster. "Severe Myoclonic Epilepsy in Infancy – Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases." Molecular Syndromology 1, no. 5 (2010): 231–38. http://dx.doi.org/10.1159/000326746.
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Mergl, R. "Kinematical analysis of emotionally induced facial expressions: a novel tool to investigate hypomimia in patients suffering from depression." Journal of Neurology, Neurosurgery & Psychiatry 76, no. 1 (January 1, 2005): 138–40. http://dx.doi.org/10.1136/jnnp.2004.037127.
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Bronner, Gila, and David B. Vodušek. "Management of sexual dysfunction in Parkinson’s disease." Therapeutic Advances in Neurological Disorders 4, no. 6 (September 2, 2011): 375–83. http://dx.doi.org/10.1177/1756285611411504.
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Nonmotor symptoms, among them sexual dysfunction, are common and underrecognized in patients with Parkinson disease; they play a major role in the deterioration of quality of life of patients and their partners. Loss of desire and dissatisfaction with their sexual life is encountered in both genders. Hypersexuality (HS), erectile dysfunction and problems with ejaculation are found in male patients, and loss of lubrication and involuntary urination during sex are found in female patients. Tremor, hypomimia, muscle rigidity, bradykinesia, ‘clumsiness’ in fine motor control, dyskinesias, hypersalivation and sweating may interfere with sexual function. Optimal dopaminergic treatment should facilitate sexual encounters of the couple. Appropriate counselling diminishes some of the problems (reluctance to engage in sex, problems with ejaculation, lubrication and urinary incontinence). Treatment of erectile dysfunction with sildenafil and apomorphine is evidence based. HS or compulsive sexual behaviour are side effects of dopaminergic therapy, particularly by dopaminergic agonists, and should be treated primarily by diminishing their dose. Neurologists should actively investigate sexual dysfunction in their Parkinsonian patients and offer treatment, optimally within a multidisciplinary team, where a dedicated professional would deal with sexual counselling.
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Gunnery, Sarah D., Barbara Habermann, Marie Saint-Hilaire, Cathi A. Thomas, and Linda Tickle-Degnen. "The Relationship between the Experience of Hypomimia and Social Wellbeing in People with Parkinson’s Disease and their Care Partners." Journal of Parkinson's Disease 6, no. 3 (August 20, 2016): 625–30. http://dx.doi.org/10.3233/jpd-160782.
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Svetel, Marina, Ivana Novakovic, Svetlana Tomic, Nikola Kresojevic, and Vladimir Kostic. "Novel PANK2 mutation identified in patient with pantothenate kinase-associated neurodegeneration." Srpski arhiv za celokupno lekarstvo 148, no. 3-4 (2020): 203–6. http://dx.doi.org/10.2298/sarh190812005s.
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Introduction. Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, recessively inherited disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13. The objective of this report is to present a patient with atypical PKAN with the novel heterozygous PANK2 mutation. Case outline. We present a 32-year-old female who had disease onset at the age 20 (depression, speech, chewing problems and backward falls) with progressive course. Neurological examination revealed hypomimia, risus sardonicus, dysphagia, tachylalia and severe dystonic dysarthria, moderate arms, legs, and jaw-opening dystonia, postural instability, urge incontinence, and decreased visual acuity. Brain magnetic resonance imaging revealed iron accumulation in the bilateral globus pallidus and putamen (?eye-of-the-tiger?), a radiological finding pathognomonic for PKAN. Genetic analysis revealed known mutation p.T528M (c.1583C>T) in exon 6, and novel p.Y405D (c.1213T>G) in exon 3 of the PANK2 gene. In silico analyses strongly suggested this mutation to be pathogenic. Conclusion. We report a patient with PKAN, and novel substitution p.Y405D (c.1213T>G) in PANK2 that has not been previously described in PKAN patients.
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Bukhurova, E. R., B. A. Alipkhanova, D. Z. Shanibova, A. Ch Sherieva, S. M. Gitinavasova, and A. T. Temirov. "Depression and Parkinson’s disease." Vestnik nevrologii, psihiatrii i nejrohirurgii (Bulletin of Neurology, Psychiatry and Neurosurgery), no. 8 (August 17, 2024): 982–91. http://dx.doi.org/10.33920/med-01-2408-03.
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Parkinson's disease is a progressive neurodegenerative disease with motor symptoms and non-motor impairments, including depression, observed in 2.7-90% of cases. Depression is frequently underestimated and diagnosed late due to its similarity with symptoms of Parkinson's disease, such as fatigue, sleep disturbances, hypomimia, etc. In approximately 25% of patients, depression precedes motor symptoms, which may indicate its connection with the pathogenesis of Parkinson's disease. The purpose of the study was to analyze current data on the pathophysiology, diagnosis, and treatment of depression in patients with Parkinson's disease. The study results have demonstrated that the pathophysiological mechanisms of depression in Parkinson's disease include neurodegeneration of dopaminergic, noradrenergic, and serotonergic neurons, neuroinflammation, and impaired neuroplasticity. For timely treatment, patients, especially those with changes in motor or non-motor symptoms, should be regularly examined. Treatment is based on a multimodal approach and includes the use of supportive psychotherapy and pharmacotherapy. Alternative methods such as exercise, cognitive behavioral therapy, transcranial magnetic stimulation, and electroconvulsive therapy are also being explored. Thus, treatment of patients with depression and Parkinson's disease requires an individualized approach. Further research into this problem is crucial to develop and improve patient management algorithms.
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Monakhova, Anastasia V., Dmitry V. Vlodavets, and Dmitry V. Kanivets. "Features of the genetic diagnosis of merosin-deficient muscular dystrophy (a clinical case)." L.O. Badalyan Neurological Journal 5, no. 4 (January 31, 2025): 218–24. https://doi.org/10.46563/2686-8997-2024-5-4-218-224.
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Merosin-deficient muscular dystrophy is a rare neuromuscular disease characterized by diffuse muscular and epileptic seizures. The disease is inherited in an autosomal recessive type and occurs as a result of biallelic variants in the LAMA2 gene. In this gene there are described all types of violations of the normal nucleotide sequence (single nucleotide variants, variations in the number of DNA copies) which can lead to difficulties in genetic search. The combination of phenotype features (hypomimia, elongated face, ophthalmoparesis, muscle hypotonia, and weakness, spinal rigidity, contractures of large joints), laboratory and instrumental research results (increased activity of creatinephosphokinase in the blood, leukopathy on brain MRI) will help you choose the right diagnostic search tactics. In this article, we present a clinical case of a patient with three identified variants in the LAMA2 gene: two point substitutions (c.4048C>T and c.4860+75G>C) and deletion of exons 2 and 3. The use of several methods of genetic testing (high-throughput sequencing, chromosomal microarray analysis, Sanger sequencing) allowed the establishing of the diagnosis, which subsequently led to successful prenatal diagnosis and the birth of healthy siblings.
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Mude, Lokesh Naik, Omprakash Shital Shukla, Rinki H. Shah, and Rajesh Rambhai Barad. "Hot cross bun in pediatric age multi-system atrophy an unusual presentation." International Journal of Contemporary Pediatrics 11, no. 2 (January 25, 2024): 245–47. http://dx.doi.org/10.18203/2349-3291.ijcp20240105.
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A 10-year-old female was brought to emergency department with complaint fever, cold, and cough for 5 days followed by weakness of upper limb weakness more than Lower limb associated with inability to walk/stand, brought to emergency with altered sensorium. Nervous system: Confused and altered, tone is normal, power: 3/3 in upper limbs 2/2 in lower limbs and reflexes in bilateral knee brisk, bilateral plantar-extensor; On general examination revealed hypomimia, dysarthria and bilateral bradykinesia along with ataxic gait and pyramidal signs. Blood investigation were normal and diagnosis made by neuroimaging s/o: Bilaterally symmetrical abnormal signal in both postero-medial thalami, bilateral insular cortices, pons and bilateral middle cerebellar peduncles. It is extending into pons involving transverse pontocerebellar tracts and median pontine raphe nuclei giving 'Hot cross bun sign' (HCBS). During course of treatment child had autonomic disturbances. Child was treated with supportive medication and methyl-presdnisolone followed by oral steroid. Child had responded to treatment given and child has been discharged with no neurological deficit on oral medications. We concluded autonomic dysfunction in any patient presenting with acute onset of weakness with short duration must evaluate for MSA and institute appropriate treatment.
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De Masi, Roberto, Stefania Orlando, Vincenzo Toni, and Maria Carmela Costa. "Fluphenazine-Induced Neurotoxicity with Acute Almost Transient Parkinsonism and Permanent Memory Loss: Lessons from a Case Report." International Journal of Molecular Sciences 24, no. 3 (February 3, 2023): 2968. http://dx.doi.org/10.3390/ijms24032968.
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We report the singular case of a 31-year-old woman who developed very serious Fluphenazine-induced parkinsonism over a few days due to a doubly incongruent drug prescription by indication and dosage having been applied to a healthy subject over one week instead of seven months. Unlike gradual drug-induced parkinsonism, our patient experienced acute extrapyramidal syndrome (EPS), reaching significant motor and sphincter disability in just a few days, followed by a gradual incomplete recovery over more than six months. In fact, after drug discontinuation, hypomimia and slight left hemi-somatic rigidity with bradykinesia remained, as well as stable non-progressive memory disturbances. Despite bio-humoral and instrumental investigations and DaTScan were negative, MRI post-analysis evidenced a 6.5% loss in brain volume. Specifically, irreversible cortical and sub-cortical grey matter reduction and cerebrospinal fluid space enlargement with spared white matter were found. Our observations suggest that the sudden availability of Fluphenazine results in a kind of plateau effect of parkinsonism presentation, partially reversible due to the neurotoxic drug effect on the cortical and sub-cortical grey matter, resulting in asymmetric EPS and stable memory loss, respectively. Our report confirms the debated neurotoxicity of first-generation neuroleptics and the postulated theory of differential susceptibility to the cytotoxic stressors on the central nervous system.
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French, Fiona, Cassandra Terry, Saif Huq, Isaac Furieri, Mateusz Jarzembinski, Simas Pauliukenas, Neil Morrison, and Karen Shepherd. "Expressive Interaction Design Using Facial Muscles as Controllers." Multimodal Technologies and Interaction 6, no. 9 (September 12, 2022): 78. http://dx.doi.org/10.3390/mti6090078.
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Here we describe a proof-of-concept case study focusing on the design and development of a novel computer interface that uses facial muscles to control interactivity within a virtual environment. We have developed a system comprised of skin-mounted electrodes that detect underlying muscle activity through electromyography. The signals from the electrodes are filtered and smoothed, then used as input data to an application that displays a virtual environment with a 3D animated avatar. The user’s expressions control the facial movements of the avatar, thus conveying user emotions through real-time animation of a representative face in a virtual scenario. To achieve this, we collaborated with our Public and Patient Involvement focus group to discuss concepts and design appropriate interactions, while simultaneously developing a prototype system. Programmers and 3D artists worked together to create a system whereby individual user facial muscles are connected to 3D animated models of the same muscle features represented in an avatar, providing the user with an option to receive visual and numerical feedback on the extent of their muscle control. Using the prototype system, people can communicate facial expressions virtually with each other, without the need for a camera. This research is part of an on-going project to develop a facial muscle rehabilitation system that can be optimized to help patients with conditions such as hypomimia.
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Chu, Kon, Jin-Whan Cho, Eun-Chol Song, and Beom S. Jeon. "A Patient with Proximal Myotonic Myopathy and Parkinsonism." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 29, no. 2 (May 2002): 188–90. http://dx.doi.org/10.1017/s0317167100121006.
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Abstract:Introduction:There are two case reports of patients who had proximal myotonic myopathy (PROMM) / myotonic dystrophy (DM) Type 1 and parkinsonism. The combination of myotonic myopathy and parkinsonism is so rare that it may appear to be just a coincidence. However, previous neuropathological examinations of patients who had myotonic dystrophy showed that there were intracytoplasmic inclusion bodies in the nigra and striatum, which raises the possibility that myotonic myopathy may be associated with parkinsonism. In this report we describe a patient with PROMM and a clinically definite parkinsonism to highlight this possibility.Case Report:A 65-year-old man developed proximal muscle weakness, myotonia and atrophy around the age of 55 and was diagnosed as having PROMM at the age of 62. Needle electromyography and muscle biopsy supported the diagnosis. A gene study of the DM Type 1 showed a normal CTG repeat length. At age 63, he developed rest tremor, bradykinesia, hypomimia, stooped posture, and gait disturbance. The postural instability worsened rapidly. The tremor and rigidity were much worse in his right side, where myotonia was more severe. Levodopa therapy was only partially effective.Conclusion:This is a case report of a patient with PROMM that shows an association with a rapidly progressive form of parkinsonism. We suggest that this may be a novel form of a neurodegenerative disorder, which we name ‘Parkinsonism- Myotonic Myopathy-Complex’.
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Fereshtehnejad, Seyed-Mohammad, Örjan Skogar, and Johan Lökk. "Evolution of Orofacial Symptoms and Disease Progression in Idiopathic Parkinson’s Disease: Longitudinal Data from the Jönköping Parkinson Registry." Parkinson's Disease 2017 (2017): 1–8. http://dx.doi.org/10.1155/2017/7802819.
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Background. Orofacial symptoms are common in Parkinson’s disease (PD) both as initial manifestations and late markers of disease complications. We aimed to investigate the evolution of orofacial manifestations and their prognostic value throughout PD progression. Methods. Data was obtained from “Jönköping Parkinson Registry” database on routine care visits of 314 people with idiopathic PD in southern Sweden. Information on baseline symptomatology, orofacial features, UPDRS, and medications was recorded at baseline and during each follow-up visit within an average of 4.2 (range: 1–12) years. Results. Hypomimia, affected speech, drooling, and impaired swallowing were present in 37.3%/91.6%, 14.1%/65.5%, 11.7%/55.3%, and 10.2%/34.5% at baseline/follow-up, respectively. Male sex [OR = 2.4 (95% CI: 1.0–5.9)], UPDRS motor scores [OR = 1.2 (95% CI: 1.1–1.3)], dominant rigidity [OR = 5.2 (95% CI: 1.4–19.1)], and autonomic disturbance [OR = 3.4 (95% CI: 1.1–10.9)] were risk factors for drooling. Individuals with more severe orofacial burden at baseline had shorter median time to develop UPDRS-Part III > 28 [3rd tertile = 4.7 yr, 2nd tertile = 6.2 yr, and 1st tertile = 7.8 yr; p = 0.014]. Conclusions. Majority of people with PD manifest orofacial manifestations at either early or late stages of the disease. PD severity, symmetry of motor disturbances, and autonomic disorders correlate with orofacial symptoms. Individuals with more severe orofacial burden at baseline progressed faster to more advanced stages.
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Serrano de Andrade Pinheiro, Renata, Hercílio Barbosa da Silva Júnior, Bruno Braga Guimarães, and Nelson Torro Alves. "“Facial Analysis of the Effects of Transcranial Direct Current Stimulation (tDCS) on Facial Parameters of Hypomimia in Parkinson's Disease: A Case Report"." Brain Stimulation 18, no. 1 (January 2025): 385–86. https://doi.org/10.1016/j.brs.2024.12.510.
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Vaz, I., and D. Maia. "Neuropsychiatric symptoms as first manifestation of olfactory groove meningioma - importance of neuroimaging evaluation." European Psychiatry 64, S1 (April 2021): S409—S410. http://dx.doi.org/10.1192/j.eurpsy.2021.1095.
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IntroductionNeuropsychiatric symptoms may be the first and only manifestation of brain tumours, while classic neurological symptoms and signs may be minimal or absent at first. These patients will often receive psychiatric treatments for prolonged periods before correct diagnosis.ObjectivesTo report the case of a patient with olfactory groove meningioma presenting with neuropsychiatric symptoms as a basis for discussion.MethodsRetrospective review of clinical notes, neuroimaging results and house photos. Literature review.ResultsA 66-year-old woman was brought by police to the psychiatric emergency department Her neighbours had notified authorities of a bad smell, and police found the house was loaded with garbage. The patients reported depressive symptoms in the last 6 months, including apathy, anhedonia, social isolation, decreased appetite and insomnia; loss of basic skills such as cooking or cleaning; she also reported dizziness and two episodes of urinary and faecal incontinence in public. The patient had a history of being medicated for depression between 2000 and 2006. Currently she was taking only alprazolam 1 mg daily. During evaluation she was conscious, oriented and cooperative, with evident hypomimia, psychomotor inhibition and indifferent attitude. Cranial nerve function was preserved except for anosmia. Cranial CT and MRI showed a solid extra-axial tumour of 5.2x3.5x4.9 centimetres compatible with meningioma of the olfactory groove, and she was referred to Neurosurgery for surgical intervention.ConclusionsThis case illustrates the importance of a thorough organic evaluation, including neuroimaging, in the differential diagnosis of patients with atypical symptoms before making a psychiatric diagnosis and instituting treatment.
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Jakubowski, Jacek, Anna Potulska-Chromik, Kamila Białek, Monika Nojszewska, and Anna Kostera-Pruszczyk. "A Study on the Possible Diagnosis of Parkinson’s Disease on the Basis of Facial Image Analysis." Electronics 10, no. 22 (November 18, 2021): 2832. http://dx.doi.org/10.3390/electronics10222832.
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One of the symptoms of Parkinson’s disease is the occurrence of problems with the expression of emotions on the face, called facial masking, facial bradykinesia or hypomimia. Recent medical studies show that this symptom can be used in the diagnosis of this disease. In the presented study, the authors, on the basis of their own research, try to answer the question of whether it is possible to build an automatic Parkinson’s disease recognition system based on the face image. The research used image recordings in the field of visible light and infrared. The material for the study consisted of registrations in a group of patients with Parkinson’s disease and a group of healthy patients. The patients were asked to express a neutral facial expression and a smile. In the detection, both geometric and holistic methods based on the use of convolutional network and image fusion were used. The obtained results were assessed quantitatively using statistical measures, including F1score, which was a value of 0.941. The results were compared with a competitive work on the same subject. A novelty of our experiments is that patients with Parkinson’s disease were in the so-called ON phase, in which, due to the action of drugs, the symptoms of the disease are reduced. The results obtained seem to be useful in the process of early diagnosis of this disease, especially in times of remote medical examination.
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Sadek, Ahmed H., Ronald Rauch, and Paul E. Schulz. "Parkinsonism due to Manganism in a Welder." International Journal of Toxicology 22, no. 5 (September 2003): 393–401. http://dx.doi.org/10.1177/109158180302200511.
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A 33-year-old right-handed male presented complaining of a 2-year history of progressive cognitive slowing, rigidity, tremors, slowing of movements, and gait instability leading to falls. On examination, he had a Mini-Mental Status Examination (MMSE) score of 29, slowed saccadic eye pursuit, hypomimia, cogwheel rigidity, a 3- to 4-Hz tremor, and a “cock-walk” gait. His symptoms and signs were similar to idiopathic Parkinson's disease; however, he was young, inattention and forgetfulness occurred early in the course of the disorder, levodopa was unhelpful, and his gait was atypical. His work up for secondary causes of parkinsonism was negative, except for increased signal intensity on T1-weighted magnetic resonance image (MRI) in the bilateral basal ganglia. Typical etiologies for that finding were ruled-out, which led to further inquiries into the patient's lifestyle. He was a welder, and discussion with his employer revealed that he used a steel-manganese alloy, he often worked in a confined ship's hold, and he did not use a respiratory mask. Because manganese toxicity can produce increased T1-weighted signal intensities in the basal ganglia, the authors tested his serum and urine manganese, and both were elevated. This patient emphasizes the importance of a careful occupational history in persons presenting with atypical manifestations of a neurodegenerative disorder. It also lends support to the hypothesis that welding can produce enough exposure to manganese to produce neurologic impairment.
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Calvo-Ariza, Nestor Rafael, Luis Felipe Gómez-Gómez, and Juan Rafael Orozco-Arroyave. "Classical FE Analysis to Classify Parkinson’s Disease Patients." Electronics 11, no. 21 (October 29, 2022): 3533. http://dx.doi.org/10.3390/electronics11213533.
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Parkinson’s disease (PD) is a neurodegenerative condition that affects the correct functioning of the motor system in the human body. Patients exhibit a reduced capability to produce facial expressions (FEs) among different symptoms, namely hypomimia. Being a disease so hard to be detected in its early stages, automatic systems can be created to help physicians in assessing and screening patients using basic bio-markers. In this paper, we present several experiments where features are extracted from images of FEs produced by PD patients and healthy controls. Classical machine learning methods such as local binary patterns and histograms of oriented gradients are used to model the images. Similarly, a well-known classification method, namely support vector machine is used for the discrimination between PD patients and healthy subjects. The most informative regions of the faces are found with a principal component analysis algorithm. Three different FEs were modeled: angry, happy, and surprise. Good results were obtained in most of the cases; however, happiness was the one that yielded better results, with accuracies of up to 80.4%. The methods used in this paper are classical and well-known by the research community; however, their main advantage is that they provide clear interpretability, which is valuable for many researchers and especially for clinicians. This work can be considered as a good baseline such that motivates other researchers to propose new methodologies that yield better results while keep the characteristic of providing interpretability.
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Cole, Sydni M., Sasmit Sarangi, David Einstein, Malgorzata McMasters, Ron Alterman, Jeffrey Bruce, Lauren Hertan, Helen A. Shih, and Eric T. Wong. "Parkinsonism reversed from treatment of pineal non-germinomatous germ cell tumor." Surgical Neurology International 12 (May 25, 2021): 237. http://dx.doi.org/10.25259/sni_595_2020.
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Background: Parkinsonism is a rare complication of non-germinomatous germ cell tumors (NGGCTs) arising from the pineal region. Case Description: We describe a 23-year-old man who presented with Parinaud syndrome, fatigue, and hypersomnia that were caused by a pineal region NGGCT with yolk sac component and an initial α-fetoprotein (AFP) of 1011.0 ng/ml. MRI revealed that the tumor was causing 10 mm of midline shift and compressing the cerebral aqueduct, the left thalamus, and the midbrain. Obstructive hydrocephalus was relieved by ventriculoperitoneal shunting. Six cycles of induction chemotherapy with ifosfamide, carboplatin, and etoposide reduced tumor size and decreased AFP levels in both serum and cerebrospinal fluid. Following the first cycle, the patient developed asymmetric, bilateral Parkinsonism consisting of bradykinesia, bradyphrenia, facial hypomimia, drooling, and dysphagia. Levodopa, amantadine, and methylphenidate were administered and resulted in symptom improvement. Second look neurosurgery revealed residual yolk sac tumor and a second induction regimen of gemcitabine, paclitaxel, and oxaliplatin was administered for rising AFP. The patient eventually received an autologous bone marrow transplant using a regimen of high-dose carboplatin, thiotepa, and etoposide with concomitant colony-stimulating factor and romiplostim support followed by consolidative proton craniospinal radiotherapy. Posttreatment head MRI showed that no evidence of tumor growth and serum AFP was within normal limits. His Parkinsonism eventually resolved and he was weaned off all dopaminergic drugs. Conclusion: Bilateral Parkinsonism from NGGCT in this patient is probably caused by pressure on nigrostriatal tracts, substantia nigra, or both. The Parkinsonian symptoms can be reversed by aggressive treatment of the tumor and administration of dopaminergic drugs.
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Correia, J. Martins, S. Freitas Ramos, M. I. Fonseca Marinho Vaz Soares, B. Jesus, D. Cruz E Sousa, and S. Caetano. "Extrapyramidal symptoms as a consequence of organophosphate poisoning: Insights from a clinical case." European Psychiatry 64, S1 (April 2021): S779—S780. http://dx.doi.org/10.1192/j.eurpsy.2021.2063.
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IntroductionThe development of an extrapyramidal syndrome (EPS) is assumed to be a potential and important consequence of organophosphate poisoning (OP). Even though its causal relationship is firmly established, the information available in the literature regarding the orientation to be given is scarce, and its approach remains shrouded in a significant degree of uncertainty. Catatonia, as a neuropsychiatric condition, may present a marked overlap with the set of extrapyramidal symptoms developed after OP. Does the overlap between the symptoms seen in catatonia and in EPS make differential diagnosis fundamental or does it have no relevance in relation to the approach to be established?ObjectivesTo discuss the therapeutic approach to be implemented in the extrapyramidal symptoms resulting from OP and reflect on the overlap between catatonia and EPS.MethodsPresentation of a clinical case and review of the literature.ResultsA 50-year-old woman with major depressive disorder developed a condition marked by exuberant extrapyramidal symptoms 3 weeks after OP. Significant stiffness, tremor, dysphagia and facial hypomimia were some of the symptoms observed. Therapy was started with amantadine 100mg daily, with complete resolution of the symptoms after 5 days. Follow-up revealed reversal of extrapyramidal symptoms, in the absence of any neuroimaging changes or any other neuropsychiatric manifestations.ConclusionsThe possible overlap between catatonia and EPS is remarkable. The two conditions, regardless of their differentiation, may benefit from an identical approach using dopaminergic drugs. The use of amantadine, even in low doses, may be an option in the rapid reversal of extrapyramidal symptoms resulting from OP.DisclosureNo significant relationships.
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Nunes, J., D. Brigadeiro, J. Andrade, and A. Pissarra da Costa. "Neuroleptic-induced Parkinsonism in Patient with Obsessive Compulsive Disorder: A Case Report." European Psychiatry 41, S1 (April 2017): S642—S643. http://dx.doi.org/10.1016/j.eurpsy.2017.01.1063.
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Obsessive-compulsive disorder (OCD) is a neuropsychiatric disorder characterized by either obsessions (recurrent unwanted thoughts, images or impulses) or compulsions (repetitive behaviors often performed to relieve anxiety or distress). In some cases, it is considered antipsychotic enhancement. However, in high doses, it can exacerbate OCD symptoms and cause extrapyramidal effects such as neuroleptic-induced Parkinsonism.Here, the authors present a clinic case of a single male patient with 50 years old, in which with the age of 42, started with a obsessive-compulsive framework about the developed task at the work place (production of fabric) followed by several verifications of the assembled pieces, which interfered with his work performance. This patient was admitted to the psychiatric hospital due to the deterioration of the symptoms with obsessive ideas of HIV contamination resulting in rigid cleaning rituals. He was medicated with several OCD medications including Clozapine 50 mg.In the following years and complaining of insomnia, the clozapine dose was increased by the patient reaching the dose of 200 mg. In 2016 he started secondary Parkinsonism framework to antipsychotics, characterized by akinesia, facial hypomimia, stiff, coarse tremor and stooped posture. Therapeutic setting was made with a reduction of clozapine at doses of 50 mg occurring fading of extrapyramidal symptoms and decrease the symptoms of OCD.The authors intend with this presented case to highlight the importance of surveillance of patients receiving antipsychotics for OCD to avoid worsening of symptoms and the development of extrapyramidal effects, which deeply contribute to the decrease of quality life of these patients.Disclosure of interestThe authors have not supplied their declaration of competing interest.
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Mangiardi, Marilena, Alessandro Magliozzi, Carlo Colosimo, and Luca Marsili. "Dropped Head Syndrome: The Importance of Neurophysiology in Distinguishing Myasthenia Gravis from Parkinson’s Disease." Biomedicines 12, no. 8 (August 12, 2024): 1833. http://dx.doi.org/10.3390/biomedicines12081833.
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Dropped head syndrome (DHS) is characterized by severe forward flexion of the cervical spine due to an imbalance in neck muscle tone. This condition can be linked to various neuromuscular diseases, including myasthenia gravis (MG). On the other hand, Parkinson’s disease (PD) patients may show a clinically indistinguishable picture named antecollis, which is caused by increased axial tone, but without muscle weakness. Differentiating between DHS and antecollis is crucial due to their distinct treatment requirements. We present the case of a 71-year-old White male with a one-month history of severe neck flexion, mild dysphagia, and dysphonia. His medical history included diabetes mellitus, coronary artery disease, arterial hypertension, and mild cervical spondylosis. Neurological examination revealed features of Parkinsonism, including hypomimia, asymmetric rigidity, and reduced arm swing. There was significant weakness in his neck extensor muscles, with no signs of ptosis or diplopia. Brain/spine MRI scans were unremarkable, but electromyography showed a reduced compound muscle action potentials amplitude in repetitive nerve stimulation, consistent with MG. High-titer acetylcholine receptor antibodies confirmed the diagnosis. Treatment with pyridostigmine (60 to 120 mg/day) and plasma exchange (daily, for five consecutive days) improved the patient’s general condition and neck posture. Concurrently, the patient was diagnosed with PD based on established clinical criteria and improved with carbidopa/levodopa therapy (up to 150/600 mg/daily). This case highlights the rare co-occurrence of MG and PD, emphasizing the need for thorough clinical, neurophysiological, and laboratory evaluations in complex DHS presentations. Managing MG’s life-threatening aspects and addressing PD symptoms requires a tailored approach, showcasing the critical role of neurophysiology in accurate diagnosis and effective treatment.
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Humphreys, Peter, and Nick Barrowman. "The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 43, no. 4 (April 6, 2016): 567–73. http://dx.doi.org/10.1017/cjn.2016.8.
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AbstractBackground: Patients with Rett syndrome (RTT) may demonstrate parkinsonian features. Here, we report a preliminary cross-sectional and prospective evaluation of the evolution, regional distribution, and eventual incidence of rigid tone in a cohort of MECP2 mutation-positive patients. Methods: In 51 participants, muscle tone rigidity in extremity regions and neck plus hypomimia were quantified using an RTT rigidity distribution (RTTRD) score with a range of 0 to 15. RTTRD scores were correlated with age, ability to walk and speak, mutation type, and, in a small subgroup (n=9), cerebrospinal fluid (CSF) homovanillic acid (HVA) and 5-hydroxyindole-acetic acid levels. Results: Participant ages ranged from 2 years and 5 months, to 54 years. Rigidity was found in 43/51 (84.3%); it appeared as early as age 3, increased in extent with age, and was present in all participants aged ≥13. Ankle region rigidity appeared first, followed by proximal legs, arms, neck, and face. Ambulatory participants (n=21) had lower RTTRD scores than nonambulatory (n=30; p=0.003). We found a trend to lower scores in participants with retained speech (n=13) versus those with none (n=38; p=0.074), and no difference in scores for those with truncating (n=25) versus missense mutations (n=22; p=0.387). RTTRD scores correlated negatively with CSF HVA levels (R=−0.83; p=0.005), but not with 5-hydroxyindole-acetic acid levels (R=−0.45; p=0.22). Conclusions: Although assessment of muscle tone is somewhat subjective and the RTTRD has not been validated, this study nevertheless suggests that parkinsonian rigidity in RTT is common and frequently increases in extent with age; its severity correlates directly with impaired ambulation and inversely with CSF HVA levels.
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Santos-García, Diego, Ariadna Laguna, Jorge Hernández-Vara, Teresa de Deus Fonticoba, Carlos Cores Bartolomé, Maria J. Feal Painceiras, Maria Cristina Íñiguez-Alvarado, et al. "Sex Differences in Motor and Non-Motor Symptoms among Spanish Patients with Parkinson’s Disease." Journal of Clinical Medicine 12, no. 4 (February 7, 2023): 1329. http://dx.doi.org/10.3390/jcm12041329.
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Background and objective: Sex plays a role in Parkinson’s disease (PD) mechanisms. We analyzed sex difference manifestations among Spanish patients with PD. Patients and Methods: PD patients who were recruited from the Spanish cohort COPPADIS from January 2016 to November 2017 were included. A cross-sectional and a two-year follow-up analysis were conducted. Univariate analyses and general linear model repeated measure were used. Results: At baseline, data from 681 PD patients (mean age 62.54 ± 8.93) fit the criteria for analysis. Of them, 410 (60.2%) were males and 271 (39.8%) females. There were no differences between the groups in mean age (62.36 ± 8.73 vs. 62.8 ± 9.24; p = 0.297) or in the time from symptoms onset (5.66 ± 4.65 vs. 5.21 ± 4.11; p = 0.259). Symptoms such as depression (p < 0.0001), fatigue (p < 0.0001), and pain (p < 0.00001) were more frequent and/or severe in females, whereas other symptoms such as hypomimia (p < 0.0001), speech problems (p < 0.0001), rigidity (p < 0.0001), and hypersexuality (p < 0.0001) were more noted in males. Women received a lower levodopa equivalent daily dose (p = 0.002). Perception of quality of life was generally worse in females (PDQ-39, p = 0.002; EUROHIS-QOL8, p = 0.009). After the two-year follow-up, the NMS burden (Non-Motor Symptoms Scale total score) increased more significantly in males (p = 0.012) but the functional capacity (Schwab and England Activities of Daily Living Scale) was more impaired in females (p = 0.001). Conclusion: The present study demonstrates that there are important sex differences in PD. Long-term prospective comparative studies are needed.
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Garcia, B. "Case Report of Progressive Supranuclear Palsy (PSP)." European Psychiatry 41, S1 (April 2017): S632—S633. http://dx.doi.org/10.1016/j.eurpsy.2017.01.1034.
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This is a case of an old man, affected by progressive supranuclear palsy (PSP), admitted due to behavioral alteration in long-term home. Medical background PSP's diagnosis in 2008. Debuts in the form of lower limb tremor, Bradykinesia and tendency to fall. Hypomimia, hypotonia, rigidity and slight postural tremor in upper limbs. Partial response to anti-Parkinson drugs. Psychiatric background, premorbid personality prone to cognitive rigidity, dichotomous thinking and impulsiveness. Join in acute unit from February to May 2012, where it is oriented as a depression of adaptive features. Several antidepressants were tested with partial response (venlafaxine, reboxetine, mirtazapina, bupropion, sertraline). Current episode patient, who comes presenting behavioral alteration with poor tolerance to the limitations imposed by the disease and passive aggressive behaviors. His wife reports difficulties in ambulation, increment of falls, and lack of hygiene and dietary transgression. Complementary explorations blood test: hemogram and biochemical unaltered, hypertriglyceridemia, syphilis, HIV serology negative. Diagnosis stable PSP, behavioral disorders are objectified within his personality disorder. Pharmacological approach. In case levodopa causes clinical symptoms of postural hypotension, stalevo is decreased and sinemet is removed. Slight improvement is noticed. Case review PSP is an uncommon brain disorder that affects movement, control of walking and balance, vision, cognitive impairment and neuropsychiatric disorders. It is associated with the deposition of hyperphosphorylated, tau, in the pallidum, subthalamic nucleus, red nucleus, etc. Cognitive deficits and neuropsychiatric symptoms may precede the onset of Parkinsonism. Most changes are referred to personality, with presence of irritability, impulsivity. Psychotic symptoms may exist. There are no disease-modifying treatments. Management should focus on optimizing life quality.Disclosure of interestThe author has not supplied his declaration of competing interest.
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Dal, Shoaib, and Scott Whyte. "035 Valproate-induced parkinsonism ‘an early warning’: case reports and review of literature." Journal of Neurology, Neurosurgery & Psychiatry 90, e7 (July 2019): A12.2—A12. http://dx.doi.org/10.1136/jnnp-2019-anzan.32.
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IntroductionWe describe two cases of valproate-induced parkinsonism, where the parkinsonian features develop after commencing valproate (VPA), in a time frame and manner well described by previous publications.1 In contrast to the published literature, that has short duration of follow-up, we have had a prolonged follow-up of these two cases, who initially improved on ceasing valproate, but then after a period progressed again, with the development of levodopa-responsive asymmetrical Parkinson’s disease.2Cases67 years old man, on VPA 500 mg twice a day for seizures since 2008, developed new rest, re-emergent left hand tremor and hypomimia in 2012. Within months, the parkinsonism progressed to decremental bradykinesia, cog-wheel rigidity and hypophonia. The symptoms initially improved with changing VPA to levetiracetam; however, the disease reappeared after 6 months and although levodopa-responsive, it has been progressive since then.88 years old man, on VPA 700 mg twice a day for seizures since 2010, developed upper limb decremental bradykinesia, cog-wheel rigidity, camptocormia and rest, re-emergent tremor in hands in 2011. The parkinsonism improved significantly with cessation of VPA; however, the disease re-emerged after 2 years and has been progressive since then.ConclusionVPA may be responsible for unmasking underlying subclinical parkinsonism and these patients represent an earlier onset of Parkinson’s disease related to VPA exposure, rather than a purely drug related parkinsonian dysfunction. These cases also highlight the importance of long-term follow up in VPA-induced parkinsonism. These observations are an important consideration for clinicians treating patients with parkinsonian features secondary to VPA exposure.ReferencesBrugger F, Bhatia KP, Besag FM. Valproate-associated parkinsonism: a critical review of the literature. CNS Drugs 2016;30(6):527–540.Mahmoud F, Tampi RR. Valproic acid-induced parkinsonism in the elderly: a comprehensive review of the literature. Am J Geriatr Pharmacother 2011;9(6):405–412.
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Mudrenko, Iryna. "The role of impairment of higher mental functions in suicidogenesis in the dementia caused by Alzheimer's disease." Psychosomatic Medicine and General Practice 3, no. 3 (August 22, 2018): e0303104. http://dx.doi.org/10.26766/pmgp.v3i3.104.
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Background Dementia is the age-related disease. At the same time, the elderly age has one of the peaks in the number of suicides. Psychology of patients with demetia is characterized by the feeling of hopelessness, pessimism, awareness of own insolvency, dependence on others, that affects the risk of suicide. It is established that the highest risk of suicide in the early stages of dementia with the progression of cognitive deficit, the risk of suicide decreases. Aim To study the role of impairment of higher mental functions (perception, reasoning, attention, memory, emotions, will, speech) in the formation of suicidal behaviour in patients with dementia in Alzheimer's disease. Materials and methods There were examined 75 patients with dementia in Alzheimer's disease, 36 patients with a history of suicidal behavior composed the main group, and 39 patients without the signs of suicidal behavior composed control group. The study was carried out using clinical-anamnestic, psychopathological methods and mathematical statistical methods. Results The high risk of suicide in dementia caused by Alzheimer's disease is combined with the inhibition of thinking, the delusional ideas of self-blame and self-effacement (p ≤ 0.05); depressed mood, inner agitation, anxiety, feeling of despair, hopelessness, guilt, melancholia, apathy (p ≤ 0.05); effector-volitional disorders in the form of hypobulia, hypokinesia, hypomimia, decreased libido (p ≤ 0.05); speech disturbance in the form of bradylalia p ≤ 0.05; greater exhaustion and decreased attention (p ≤ 0.05). On the contrary, the following peculiarities of higher mental functions, namely thought disorder are referred to the anti-risk factors of suicide in dementia caused by Alzheimer's disease: the delusional ideas of relation and damage (p ≤ 0.05); emotions: the feeling of fear (p ≤ 0.05); effector-volitional sphere: parabulia and hyperkinesia (p ≤ 0.05). Conclusion On the basis of clinical and psychopathological study of patients with dementia in Alzheimer's disease, the specific impairment of higher mental functions and emotional-volitional spheres reasoning, memory, attention, perception, speech, emotions) are identified associated with high risk of suicide.
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Gonzalez-Mota, A., A. Gonzalez-Gil, C. Martin-Gomez, J. A. Benito-Sanchez, I. M. Peso-Navarro, and L. Fernandez-Alonso. "Acute mutism in a young female. A case report of a 20-year-old female who presents a 3-month mutism." European Psychiatry 66, S1 (March 2023): S177—S178. http://dx.doi.org/10.1192/j.eurpsy.2023.427.
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Introduction A 20-year-old female presents with a progressive 3-month mutism, hyporexia (20kg weight loss), abulia, anhedonia, apathy, social isolation,seeking company of her parents even at night, bradypsychia, sialorrhea, psychomotor slowdown and hypomimia. She is hospitalized in the Psychiatric Brief Hospitalization Unit (PBHU).Her parents relate the beginning of this symptomatology to a breakup and gender violence,which the patient confirms during the interview by eye/cephalic movements and single words jotted down. Objectives The objective of this study is to describe the evolution of the patient during her hospitalization in the PBHU of Salamanca and to look into the available bibliography about mutism related to stress and sialorrhea. Methods We carried out a follow-up of the hospitalization of the patient and a structured search in PubMed with the keywords “mutism”,“sialorrhea” and “stress” in the last 10 years in English,Spanish and French. Results Few or no articles where found.Therefore, the articles about mutism and stress were analyzed, which focused mostly in selective mutism. Regarding fear,the response to cope with the threat(fight, flight, freeze) is mediated by the autonomic system. The “Polyvagal Theory” speaks about the vagus nerve participating in emotion regulation (social communication and mobilization). Dissociation, in this context,has adaptive and defensive purposes and its threshold can be reduced by repeated stress situations.Long-term alteration of the autonomic nervous system has been described in selective mutism.This malfunction can be related to an elevated production of saliva due to the activation of the parasympathetic in the salivary glands, causing sialorrhea in our patient. The patient began treatment with sertraline 100mg and risperidone 2mg with the aim of its antidepressive and major tranquilizer effects, she also began individual and family psychotherapy, we assured her sleep and intakes and she began to progressively recover her speech and mobility,identifying a possible trigger for the symptomatology: a physical beating of gender violence after her breakup. Conclusions Dissociation and “freeze” response can be a maladaptative mechanism to fear.The malfunction of the autonomic nervous system can explain the disconnection,poor gaze,low facial and body expression and inability to speak. Disclosure of Interest None Declared
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Gudera, J. A., J. M. Baehring, R. K. Fulbright, J. Dietrich, and P. Karschnia. "P12.10.B HYPOKINETIC MOVEMENT DISORDERS FOLLOWING ADOPTIVE IMMUNOTHERAPY WITH BCMA-DIRECTED CAR T-CELLS: A CONSECUTIVE CASE SERIES." Neuro-Oncology 26, Supplement_5 (October 2024): v68. http://dx.doi.org/10.1093/neuonc/noae144.223.
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Abstract BACKGROUND Chimeric Antigen Receptor (CAR) T-cells targeting the B-cell maturation antigen (BCMA) represent an emerging immunotherapy for refractory multiple myeloma. While acute neurologic toxicities frequently occur and are well-described, hypokinetic movement disorders are rare and ill-defined. Clinical experience and therapeutic management therefore remain to be elucidated. MATERIAL AND METHODS We retrospectively searched the institutional databases from the Sections for Neuro-Oncology at the Yale School of Medicine (New Haven, Connecticut) and the Massachusetts General Hospital (Boston, Massachusetts) to identify patients that presented for evaluation of movement disorders following transfusion of BCMA-directed CAR T-cells. RESULTS We identified four patients (females: n = 3, males: n = 1) with complex movement symptoms following transfusion of BCMA-targeting CAR T-cells. At presentation, median age was 74.5 ± 4.3 years (range, 67-77 years). All patients received a single transfusion of a commercially available CAR T-cell product (ciltacabtagene-autoleucel: n = 3; idecabtagene-vicleucel: n = 1). Parkinsonism-like symptoms were generally preceded by mild (maximal ICANS: grade 3) and transient (median duration: 4 days) neurotoxicity.Following resolution of acute neurotoxicity, all patients developed parkinsonism-like symptoms after a median of 23 ± 7 days (range, 19-35 days). Predominant motor symptoms were bradykinesia, oppositional paratonia, postural instability, and hypomimia. Psychiatric involvement was noted in three patients. Consistent with the potential on-target/off-tumor toxicity of the CAR T-cells against BCMA-positive basal ganglia, MRI revealed bilateral hyperintensities in the head of the caudate nucleus on FLAIR/T2-weighted or diffusion-weighted sequences in two patients. [18F]-FDG-PET scans revealed basal ganglia hypometabolism in one patient, diffuse frontal hypometabolism in another, and diffuse hypometabolism in a third patient.As symptoms progressed, treatment for movement symptoms was administered in all patients and included systemic immunosuppression (corticosteroids), interleukin-antagonists, aimed to reduce the number of circulating CAR T-cells (cyclophosphamide, intrathecal methotrexate, cytarabine) or symptomatic treatment (levodopa/carbidopa). At a median follow-up of 115 days (range, 69-198 days), one patient died of sepsis despite aggressive therapy while symptoms stabilized in three patients. CONCLUSION Given that parkinsonism-like movement disorders may develop weeks after transfusion of BCMA-directed CAR T cells, a high degree of suspicion is crucial to establish diagnosis. Since symptom stabilization may be achieved, early diagnosis may form the basis for more favorable outcomes. Thus, a multidisciplinary care team appears crucial to provide optimal care of affected patients.
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Honda, Neli K., Izilda A. A. Devincenzi, and Lauro Xavier Filho. "Erratum." Bryophyte Diversity and Evolution 12, no. 1 (December 31, 1996): 236. http://dx.doi.org/10.11646/bde.12.1.20.
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