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Literatura académica sobre el tema "Hereditary ataxia"

Autor: Grafiati

Publicado: 10 de marzo de 2023

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Artículos de revistas sobre el tema "Hereditary ataxia"

Lee, Jun Ho, Jaeho Kang, Yeoung deok Seo, Jeong Ik Eun, Hyunyoung Hwang, Sungyeong Ryu, Junseok Jang y Jinse Park. "A Familial Case Presented with Various Clinical Manifestations Caused by <i>OPA1</i> Mutation". Journal of the Korean Neurological Association 41, n.º 1 (1 de febrero de 2023): 60–63. http://dx.doi.org/10.17340/jkna.2023.1.11.

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Ataxia is presented by various etiologies, including acquired, genetic and degenerative disorders. Although hereditary ataxia is suspected when typical symptom of ataxia with concurrent is identified, it is sometimes difficult to diagnose hereditary ataxia without genetic test. Clinically, next generation sequencing technology has been developed and widely used for diagnosis of hereditary disease. Hereby, we experienced cases of genetically confirmed <i>OPA1</i> mutation, which are presented with various clinical manifestations including ataxic gait and decreased visual acuity.

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Spencer, Kristie A. y Mallory Dawson. "Dysarthria Profiles in Adults With Hereditary Ataxia". American Journal of Speech-Language Pathology 28, n.º 2S (15 de julio de 2019): 915–24. http://dx.doi.org/10.1044/2018_ajslp-msc18-18-0114.

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Purpose This preliminary study examined whether speech profiles exist for adults with hereditary ataxia based on 2 competing frameworks: a pattern of instability/inflexibility or a pattern of differential subsystem involvement. Method Four dysarthria experts rated the speech samples of 8 adults with dysarthria from hereditary ataxia using visual analog scales and presence/severity rating scales of speech characteristics. Speaking tasks included diadochokinetics, sustained phonation, and a monologue. Results Speech profiles aligned with the instability/inflexibility framework, with the pattern of instability being the most common. Speech profiles did not emerge for the majority of speakers using the differential subsystem framework. Conclusions The findings extend previous research on pure ataxic dysarthria and suggest a possible framework for understanding the speech heterogeneity associated with the ataxias. The predominance of the instability profile is consistent with the notion of impaired feedforward control in speakers with cerebellar disruption.

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Wallace, Stephanie E. y Thomas D. Bird. "Molecular genetic testing for hereditary ataxia". Neurology: Clinical Practice 8, n.º 1 (25 de enero de 2018): 27–32. http://dx.doi.org/10.1212/cpj.0000000000000421.

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Purpose of reviewBecause of extensive clinical overlap among many forms of hereditary ataxia, molecular genetic testing is often required to establish a diagnosis. Interrogation of multiple genes has become a popular diagnostic approach as the cost of sequence analysis has decreased and the number of genes associated with overlapping phenotypes has increased. We describe the benefits and limitations of molecular genetic tests commonly used to determine the etiology of hereditary ataxia.Recent findingsThere are more than 300 hereditary disorders associated with ataxia. The most common causes of hereditary ataxia are expansion of nucleotide repeats within 7 genes: ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A (spinocerebellar ataxia type 6), and FXN (Friedreich ataxia). Recent reports describing the use of clinical exome sequencing to identify causes of hereditary ataxia may lead neurologists to start their clinical investigation with a less sensitive molecular test providing a misleading “negative” result.SummaryThe majority of individuals with hereditary ataxias have nucleotide repeat expansions, pathogenic variants that are not detectable with clinical exome sequencing. Multigene panels that include specific assays to determine nucleotide repeat lengths should be considered first in individuals with hereditary ataxia.

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Wong, D., M. Dwinnel, M. Schulzer, M. Nimmo, B. R. Leavitt y S. D. Spacey. "Ataxia and the Role of Antigliadin Antibodies". Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 34, n.º 2 (mayo de 2007): 193–96. http://dx.doi.org/10.1017/s031716710000603x.

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Background:Although it is acknowledged that patients with celiac disease can develop neurological complications such as ataxia, the association of antigliadin antibodies in the etiology of sporadic ataxia and the usefulness of this testing in diagnosis of ataxia is controversial.Methods:We investigated this association by testing for the presence of IgG and IgA antigliadin antibodies in 56 ataxic patients and 59 controls. The ataxia patients were subsequently classified into three groups: sporadic, hereditary and MSA.Results:Of the total ataxic patients, 6/56 (11%) were positive for either IgG or IGA antigliadin antibodies compared to the controls of which 5/59 (8%) were positive (p = 0.68). In a subgroup analysis, 4/29 (14%) of the samples in the sporadic ataxic subgroup were positive for antigliadin antibodies (IgG or IgA) compared to control (p = 0.44). Similar negative results were found in the remaining subgroup analyses.Conclusions:These results do not support an association between antigliadin antibodies and sporadic ataxias.

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Rosenberg, Roger N. y Abraham Grossman. "Hereditary Ataxia". Neurologic Clinics 7, n.º 1 (febrero de 1989): 25–36. http://dx.doi.org/10.1016/s0733-8619(18)30826-0.

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Yang, Sirui, Weihong Xu, Shibo Li, Shicheng Liu, Honghua Lu, Xiaosheng Hao, Feiyong Jia y Guiling Xue. "Clinical and laboratory diagnosis of spinocerebellar ataxia type 3 in a large Chinese family". Asian Biomedicine 5, n.º 1 (1 de febrero de 2011): 57–62. http://dx.doi.org/10.5372/1905-7415.0501.006.

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Abstract Background: Hereditary ataxia is a group of hereditary diseases that are characterized by chronic progressive uncoordinated gait and are frequently associated with cerebellar atrophy. Objectives: To investigate evidence-based diagnosis of hereditary ataxia by retrospective analysis of the diagnostic process in one Chinese family. Methods: Clinical records of 15 ataxia patients from one Chinese family with 46 family members were retrospectively reviewed and a tentative diagnosis was made based on clinical manifestations, signs and symptoms, mode of inheritance, and progression. Since hereditary ataxia is a group of heterogeneous diseases having various subtypes and overlapping symptoms, we adopted a stepwise evaluation to achieve a tentative diagnosis. To confirm the diagnosis, we performed polymerase chain reaction (PCR) specific for the suspected causative gene of spinocerebellar ataxia (SCA) subtype 3 (SCA3). Results: Through analysis of hereditary and clinical characteristics of family histories of the patients, we suspected that the family might suffer from SCA, especially, SCA3. The PCR assay for SCA3 showed that, five of the ten samples analyzed had a CAG trinucleotide expansion of the SCA3 gene, and four of the five members developed ataxia. The remaining one, a seven-year-old girl, showed no symptoms or signs except for uvula deviation. No clinical symptoms were found in five other members with negative PCR results. Thus, based on both clinical findings and laboratory results, we further confirmed that the family suffered from SCA3. Conclusion: Hereditary ataxias are disorders sharing overlapping symptoms. Comprehensive analysis of medical and family records together with genetic diagnosis improves diagnostic efficiency of hereditary ataxia and aides in family counseling.

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Kaleağası, Hakan. "Autosomal Recessive Hereditary Ataxias Except Friedreich’s Ataxia". Journal of Parkinson’s Disease and Movement Disorders 18, n.º 1-2 (14 de octubre de 2015): 8–16. http://dx.doi.org/10.5606/phhb.dergisi.2015.02.

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Taylor, M. J., W. Y. Chan-Lui y W. J. Logan. "Longitudinal Evoked Potential Studies in Hereditary Ataxias". Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 12, n.º 2 (mayo de 1985): 100–105. http://dx.doi.org/10.1017/s0317167100046783.

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ABSTRACT:We studied multimodal evoked potentials (EPs) longitudinally in a series of children with Friedreich’s ataxia and ataxia telangiectasia to determine both their diagnostic utility and their correlation with clinical regression.The auditory brainstem responses (ABRs) were abnormal only in the children with Friedreich’s ataxia. The abnormality seen in these patients was a rostral-caudal loss of the ABR waves. The visual EPs (VEPs) were abnormal in many of the patients; those with ataxia telangiectasia had unusually low amplitude or absent VEPs, occasionally with increased latencies, whereas those with Friedreich’s ataxia had normal amplitude VEPs, often at increased latencies. The somatosensory EPs were usually of increased latency or absent in these patients. Unlike the ABR and VEPs, they did not serve to differentiate the groups.Changes in the EPs appeared to reflect clinical deterioration; patients with little change in their EPs over several years were regressing very slowly, whereas others had rapid deterioration in both EPs and clinical status. We suggest that the EPs are diagnostically of value in degenerative ataxias and may be of value in monitoring these patients and their response to therapy.

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Urkasemsin, Ganokon y Natasha J. Olby. "Canine Hereditary Ataxia". Veterinary Clinics of North America: Small Animal Practice 44, n.º 6 (noviembre de 2014): 1075–89. http://dx.doi.org/10.1016/j.cvsm.2014.07.005.

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Pinto, Wladimir Bocca Vieira de Rezende, José Luiz Pedroso, Paulo Victor Sgobbi de Souza, Marcus Vinícius Cristino de Albuquerque y Orlando Graziani Povoas Barsottini. "Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition". Arquivos de Neuro-Psiquiatria 73, n.º 10 (18 de agosto de 2015): 823–27. http://dx.doi.org/10.1590/0004-282x20150119.

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Cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation. We evaluated patients with acquired non-progressive cerebellar ataxia that presented previous acute or subacute onset. Clinical and neuroimaging characterization of adult patients with acquired non-progressive ataxia were performed. Five patients were identified with the phenotype of acquired non-progressive ataxia. Most patients presented with a juvenile to adult-onset acute to subacute appendicular and truncal cerebellar ataxia with mild to moderate cerebellar or olivopontocerebellar atrophy. Establishing the etiology of the acute triggering events of such ataxias is complex. Non-progressive ataxia in adults must be distinguished from hereditary ataxias.

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Más fuentes

Tesis sobre el tema "Hereditary ataxia"

Beaudin, Marie. "The nosology of hereditary cerebellar ataxias : development of a classification for recessive ataxias and phenotypical description of Spinocerebellar ataxia 34". Master's thesis, Université Laval, 2019. http://hdl.handle.net/20.500.11794/36557.

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Les ataxies cérébelleuses héréditaires causent une atteinte progressive de l’équilibre et de la marche. Malgré l’amélioration de la performance et de l’accessibilité des tests génétiques, environ la moitié des patients demeurent sans diagnostic précis, ce qui a un impact sur la prise en charge. Dans ce mémoire de maîtrise, nous abordons l’enjeu du sous-diagnostic chez les patients atteints d’ataxie cérébelleuse via l’élaboration d’une nouvelle classification pour les ataxies récessives et la caractérisation détaillée de l’ataxie spinocérébelleuse 34. Le premier chapitre est une revue systématique de la littérature concernant les ataxies récessives. Au total, 2354 références et 130 articles complets ont été révisés afin d’identifier un groupe de 45 pathologies récessives où l’atteinte cérébelleuse est au coeur du phénotype et 29 pathologies multisystémiques additionnelles où l’ataxie est un élément secondaire, mais qui devraient être incluses dans le diagnostic différentiel du patient ataxique. Le deuxième chapitre présente les résultats d’un groupe de travail dédié à la classification des ataxies récessives. En se basant sur les résultats de la revue systématique, 12 experts internationaux se sont entendus sur des critères d’inclusion ainsi que sur deux classifications basées sur la symptomatologie clinique et les mécanismes cellulaires impliqués. Une approche clinique au patient ataxique est proposée. Le troisième chapitre présente une caractérisation en profondeur de l’ataxie spinocérébelleuse 34, causée par des mutations du gène ELOVL4. Nous avons étudié une famille multi-générationnelle présentant un syndrome cérébelleux tardif associé à des déficits exécutifs et une possible atteinte visuospatiale, attentionnelle et psychiatrique. L’analyse immunohistochimique de fibroblastes dermiques a démontré la délocalisation et l’agrégation de la protéine. Un système de classification basé sur des descriptions phénotypiques étoffées est essentiel pour les cliniciens et les chercheurs afin d’organiser adéquatement les groupes de maladies complexes. Le travail présenté constitue une avancée concrète pour améliorer l’approche diagnostique aux patients avec ataxie héréditaire
Hereditary cerebellar ataxias are neurodegenerative disorders associated with progressive motor incoordination and gait imbalance. Despite significant progress in the availability and performance of genetic tests, around half of patients remain without a molecular diagnosis, which has major counselling and management consequences. In this master thesis, we address the issue of underdiagnosis in patients with hereditary ataxias through the development of a novel classification system for recessive cerebellar ataxias and the in-depth characterization Spinocerebellar ataxia 34. The first chapter is a systematic review of the literature regarding recessive cerebellar ataxias. We revised 2354 references and 130 full-text articles to identify a group of 45 recessive disorders in which cerebellar ataxia is at the core of the clinical phenotype and 29 additional complex or multisystem disorders where ataxia is a secondary feature and which should be included in the differential diagnosis of ataxia. The second chapter presents the work of a dedicated task force on the classification of recessive cerebellar ataxias. Based on the results of the systematic review, 12 international ataxia experts agreed on revised inclusion criteria and on classifications based on clinical symptoms and pathogenic cellular mechanisms. We also propose a general clinical approach to the ataxic patient. The third chapter shows the clinical and biochemical characterization of a rare dominant ataxia, Spinocerebellar ataxia 34 caused by ELOVL4 mutations. We studied a multi-generational family with a late-onset cerebellar syndrome associated with executive deficits, and apparent visuospatial, attention, and psychiatric dysfunction. Immunohistochemistry of dermal fibroblasts showed the first evidence of ELOVL4 protein pathology in this disorder with mislocalization and aggregation of the protein. Classification systems based on detailed phenotypic descriptions are essential for both clinicians and researchers to understand complex groups of disorders. The work presented here advances our understanding of hereditary ataxias and constitutes a pragmatic diagnostic tool for clinicians.

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Kang, Ce. "Investigating the Genetic Basis of the Spastic-Ataxias using Next Generation Sequencing and a Mutation Database". Thesis, The University of Sydney, 2021. https://hdl.handle.net/2123/27330.

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Introduction: “Spastic-ataxias” are a group of conditions that are characterised by spasticity as well as ataxia. They are usually hereditary in nature, and demonstrate widespread genetic heterogeneity and phenotypical variance. In this thesis, I seek to draw meaningful genotype-phenotype relationship in two disorders – Hereditary Cerebellar Ataxia (HCA) and Hereditary Spastic Paraplegia (HSP). Method: We undertook separate studies for each disorder. The first study is a retrospective review of HCA cases referred to the Neurogenetics Clinic at Royal North Shore Hospital over a 15-year period. Here, the patient’s signs and symptoms are analysed with their mode of genetic investigation. The second study is a systemic review of all published HSP cases in the PubMed database until April 2018. For this study, the cases of HSP are limited to patients with mutations in ATL1, SPAST, and REEP1, the most common autosomal dominant variants of HSP. The signs and symptoms of these cases were analysed along with the genetic and mutational data. Results: For the HCA study, we reviewed 87 cases, and found routine repeat expansion panels have a detection rate of 13.8%, with next-generation sequencing (NGS) yielded a further 34.4% (11/32). NGS and whole genome sequencing together improve the overall diagnostic rate to 28.8%, and detected several novel variants. For the HSP study, we reviewed 1642 cases, and found several key phenotypic differences amongst the three variants. We found loss-of-function variants to be more frequent in SPAST and REEP1, and is associated with more severe disease in SPAST. Discussion: Our studies highlight the genetic and phenotypic heterogeneity of HCA and HSP. In HCA, we support the use of NGS approaches for individuals who were negative on repeat expansion testing. In HSP, we found several key differences amongst the variants to have implication for clinical diagnosis. These studies have contributed key findings to the literature of “spastic-ataxia”.

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Nicol, Megan E. "Unraveling the Nexus: Investigating the Regulatory Genetic Networks of Hereditary Ataxias". Ohio University Honors Tutorial College / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ouhonors1400604580.

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Finnsson, Johannes. "Radiological studies of LMNB1-related autosomal dominant leukodystrophy and Marinesco-Sjögren syndrome". Doctoral thesis, Uppsala universitet, Radiologi, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-303171.

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There are approximately 6000 to 8000 rare diseases, each with a prevalence of less than 1 / 10 000, but in aggregate affecting 6 to 8% of the population. It is important to evaluate disease development and progression to know the natural course of any disease. This information can be utilized in diagnostics and in assessing effects of therapeutic interventions as they become available. This thesis describes the natural clinical history and evolution of imaging findings of two rare diseases over approximately two decades. Papers I, II and III present clinical, magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS) and 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) findings in LMNB1-related autosomal dominant leukodystrophy (ADLD). MRI was found to be very sensitive in finding pathology in patients with LMNB1-related ADLD, even before the onset of clinical symptoms. However, even patients with widespread MRI changes can have a relatively mild symptomatology and present only slight disturbances in metabolic examinations such as MRS and FDG-PET. This is compatible with relatively intact axons, even as myelin impairment is widespread. Paper IV presents clinical and MRI findings in the brain and musculature in SIL1-positive Marinesco-Sjögren syndrome (MSS), and describes a new, mild phenotype of the disease with no intellectual disabilities and only slight motor disabilities. With a 19-year-long radiological follow-up, a slow progressive atrophic process in the cerebellum and brainstem could be demonstrated. MRI of the musculature shows early involvement of the quadriceps and gastrocnemii but not the tibialis anterior, progressing to widespread atrophy in the back and upper and lower limbs at the age of 20 years. In the mildest phenotype, the most severely affected muscles were the m gluteus maximus, m sartorius, m peroneus longus, and the lateral head of the m gastrocnemius.

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Tsai, Ming-Ju y 蔡明儒. "Mood Problems in Hereditary Neurodegenerative Diseases ― Examples with Spinocerebellar Ataxia and Huntington's Disease". Thesis, 2005. http://ndltd.ncl.edu.tw/handle/49032400211909697410.

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碩士
國立陽明大學
遺傳學研究所
93
[Background]: Depressive mood is a common problem encountered in genetic counseling for patients with hereditary neurodegenerative diseases, who not only struggle with progressive physical disability but also suffer from psychological stresses of social stigma and hopelessness. Partly being taken as a “normal reaction” and partly being repelled as insanity, depressive mood is usually neglected by the patients and their families, which may later develop to depressive disorder and even result in suicide. Patients with Spinocerebellar Ataxia (SCA) or Huntington’s disease and their primary caregivers were recruited to study the prevalence and management of depressive mood in hereditary neurodegenerative diseases. [Method]: Thirteen patients with Spinocerebellar Ataxia (SCA), 5 patients with Huntington’s disease and 14 caregivers of the patients were recruited. Brief Psychiatric Rating Scale (BPRS) was used in the primary screening to rule out psychotic symptoms. Hamilton Depression Rating Scale (HDRS), with reference to the result of self-rating Beck Depression Inventory (BDI-II), was used to evaluate the mood status. Subjects with an HDRS score higher than 7 were given further counseling, evaluation, psychoeducation, and, referral to a psychiatrist under the subjects’ consent. Follow up assessments were performed 4-6 months after the initial evaluation. [Results]: Seventeen of the 32 studied subjects had an HDRS score higher than 7 in the initial assessment, among them 9 had a score equal or higher than 13 which indicates a possible presence of depressive disorders. The subjects (n= 4) who were referred for psychiatric management had obvious improvement in mood (HDRS score from 11.5±3.7 to 5.8±1.5), while most of the subjects refusing to see a psychiatrist remained in depressed state (HDRS score from 14.2±3.8 to 11.8±3.5). One patient was lost during follow up. [Conclusion]: The patients with SCA or Huntington's disease and their caregivers have a relatively high rate of depressive mood which can be identified by a genetic counselor using HDRS and BDI-II rating scales. Our preliminary results indicate that identification of depressive mood and early referral for psychiatric intervention may help the patients with hereditary neurodegenerative diseases and their caregivers in view of depressive disorders.

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Galatolo, Daniele. "An integrated, next-generation approach to identify new genes and new pathways in hereditary ataxias". Doctoral thesis, 2020. http://hdl.handle.net/2158/1188709.

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The Hereditary ataxias (HAs) are a group of heterogenous neurological disorders associated with multiple genetic etiologies and encompassing a wide spectrum of phenotypes, where ataxia is the prominent feature. HAs are characterized by degeneration of Purkinje cell and/or spinocerebellar connections, often associated with defects in additional brain structures, and all patterns of inheritance may occur. Similar to other fields of medical genetics, Next Generation Sequencing (NGS) has entered the HA scenario widening our genetic and clinical knowledge of this condition, but routine NGS applications still miss genetic diagnosis in about two third of patients. In this doctoral study, we applied multi-gene panels to define the molecular basis in 259 patients with a clinical diagnosis of HA and negative to tests for pathological expansion in SCA1, 2, 3, 6, 7, 8, 12, 17 and FXN. We found a positive molecular diagnosis in 25% of patients, whereas a similar number of patients had an uncertain diagnosis due to the presence of either variants of uncertain significance or lack of biological samples to determine segregation among family members. Hence despite a higher positive diagnostic rate compared to similar studies described in literature, a half of patients lacked any indication of the genetic cause of their disease. Using exome sequencing as a second-tier approach in some families, refractory to multi-gene panel analysis, did not significantly improved our diagnostic yield. On the other hand, NGS analysis in our cohort indicated that familial cases were more easily diagnosed rather than sporadic cases, and also that combining massive sequencing with detailed clinical information and family studies increases the likelihood to reach a molecular diagnosis. Among positive patients, we could expand clinical and allelic information in a subgroup of genes offering original description of new mutations and corroborating genetic findings with functional investigations that took advantage of different in vitro or in vivo platforms. In particular, through functional studies in SPG7 knock-down models of Drosophila melanogaster, we remarked that SPG7, whose mutations cause spastic paraplegia type 7, has a critical role in neurons more than in skeletal muscle. The high frequency of p.Ala510Val mutation in SPG7 observed in our cohort as well in similar studies performed elsewhere moved us to develop a humanized knock-in fruit fly model harboring that specific mutation and prepare preliminary characterizations. Similar studies in fruit fly were performed silencing AFG3L2, the gene causing SPAX5 in a child in association with an unusual, relatively milder phenotype. Furthermore, combination of skin fibroblasts and Saccharomyces cerevisiae as models was employed in the genetic characterization of new mutations in a novel recessive HARS-related phenotype whereas primary human cells, yeast and Danio rerio models were used to functionally characterize new HA-related mutations in COQ4. Finally, we could expand the clinical presentation of rare causes of HAs describing new dominant mutations in STUB1 and biallelic variants in RFN216, COQ8A, and ATP13A2. Altogether, studies performed during this doctoral work further underlined the usefulness of NGS in HAs and highlighted how NGS technologies rely on the integrated use of family and clinical studies and different in vitro/in vivo platforms to substantiate molecular findings. The latter platform will be also a tool for future investigations to dissect pathogenesis and to improve therapies.

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Santos, Carolina Inácio dos. "Gene Suppression Therapy in Hereditary Cerebellar Ataxias". Master's thesis, 2021. https://hdl.handle.net/10216/134636.

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Santos, Carolina Inácio dos. "Gene Suppression Therapy in Hereditary Cerebellar Ataxias". Dissertação, 2021. https://hdl.handle.net/10216/134636.

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Bessa, Maria Beatriz Guilherme Pinto. "Movement Disorders in Autosomal Dominant Hereditary Ataxias: A Literature Review". Master's thesis, 2020. https://hdl.handle.net/10216/128385.

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Ruano, Luís Manuel Rebelo. "The epidemiology of hereditary ataxias and spastic paraplegias in Portugal". Master's thesis, 2013. https://repositorio-aberto.up.pt/handle/10216/101695.

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Libros sobre el tema "Hereditary ataxia"

J, Vinken P., Bruyn G. W, Klawans Harold L y Jong, J. M. B. V. de., eds. Hereditary neuropathies and spinocerebellar atrophies. Amsterdam: Elsevier Science, 1991.

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Pitt, Matthew. Pathophysiological correlations in neuropathies. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198754596.003.0004.

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This chapter begins with an explanation of the pathophysiological correlations between the recorded changes and the underlying diagnosis which allow classification into demyelinating and axonal neuropathy. Demyelinating neuropathies are discussed first. The extensive and ever expanding literature in hereditary neuropathies is highlighted. The different variants of the acute inflammatory demyelinating polyneuropathy encountered in children are discussed along with the electrodiagnostic criteria for the diagnosis. Chronic inflammatory demyelinating polyneuropathy is then covered, both in its clinical presentation and electrodiagnosis. Other causes such as MNGIE and Lyme disease are highlighted. In the section on axonal neuropathy, division into hereditary and acquired is made. The diagnosis of sensorimotor hereditary neuropathies is discussed along with primarily sensory neuropathies including ataxia telangiectasia, Friedreich’s ataxia, and abetalipoproteinaemia, finishing with discussion of the hereditary sensory and autonomic neuropathies. The many different causes of acquired axonal neuropathy are listed and discussed including neoplasia, endocrine disturbances, metabolic conditions, infective agents, autoimmune conditions, mitochondrial disease, drugs, and vitamin deficiency, finishing with critical illness neuromyopathy.

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Sybert, Virginia P. Disorders of the Dermis. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0005.

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Collagen – Ainhum – Amniotic Bands – Buschke-Ollendorff Syndrome – Dermatosparaxis – Ehlers-Danlos Syndromes – Ehlers-Danlos Types I, II, and III – Ehlers-Danlos Type IV – Ehlers-Danlos Type VI – Ehlers-Danlos Type VIII – Reactive Perforating Collagenosis – Elastin – Costello Syndrome – Cutis Laxa – Pseudoxanthoma Elasticum – Vascular – Ataxia Telangiectasia – Blue Rubber Bleb Nevus Syndrome – Cutis Marmorata Telangiectatica Congenita – Fabry Syndrome – Familial Flame Nevi – Hereditary Glomus Tumors – Hereditary Hemorrhagic Telangiectasia – Klippel-Trenaunay-Weber Syndrome – Maffucci Syndrome – Sturge-Weber Syndrome – Mixed – Aplasia Cutis Congenita – Focal Dermal Hypoplasia – Tuberous Sclerosis – Other Disorders of the Dermis – Albright Hereditary Osteodystrophy – Cutis Verticis Gyrata – Familial Dysautonomia – François Syndrome – Lipoid Proteinosis – Multiple Pterygia – Systemic Hyalinosis

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Sybert, Virginia P. Disorders of the Dermis. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0005.

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Chapter 5 covers Collagen disorders (Ainhum, Amniotic Bands, Buschke-Ollendorff Syndrome, Dermatosparaxis), Ehlers-Danlos Syndromes (Ehlers-Danlos Types I, II, and III, Ehlers-Danlos Type IV, Ehlers-Danlos Type VI, Ehlers-Danlos Type VIII, and Reactive Perforating Collagenosis), Elastin (Costello Syndrome, Cutis Laxa, and Pseudoxanthoma Elasticum), Vascular disorders (Ataxia Telangiectasia, Cutis Marmorata Telangiectatica Congenita, Fabry Syndrome, Familial Flame Nevi, Hereditary Glomus Tumors, Hereditary Hemorrhagic Telangiectasia, Klippel-Trenaunay-Weber Syndrome, Maffucci Syndrome, and Sturge-Weber Syndrome, and Multiple Cutaneous and Mucosal Venous Malformations), Mixed disorders (Aplasia Cutis Congenita, Focal Dermal Hypoplasia, Tuberous Sclerosis Complex), and other Disorders of the Dermis (Albright Hereditary Osteodystrophy, Cutis Verticis Gyrata, Familial Dysautonomia, François Syndrome, Hyaline Fibromatosis Syndrome, Lipoid Proteinosis, and Multiple Pterygia). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

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Mochel, Fanny. Spastic Paraplegia Type 5. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0041.

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Spastic paraplegia type 5 (SPG5) is an autosomal recessive hereditary spastic paraplegia due to mutations in CYP7B1, which encodes oxysterol 7α‎-hydroxylase. Oxysterol 7α‎-hydroxylase is involved in the synthesis of bile acids from cholesterol. CYP7B1 mutations are responsible for rare forms of liver failure in infancy as well as lower motor neuron degeneration in adults with no obvious genotype-phenotype correlation. SPG5 is mostly characterized by spastic paraplegia with prominent posterior column sensory impairment that can lead to sensory ataxia and bladder dysfunction. SPG5 can easily be diagnosed thanks to the significant elevation of two plasma oxysterols: 27- and 25-hydroxycholesterol. Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology. Furthermore, the dramatic therapeutic response of a child with liver failure due to CYP7B1 mutations using chenodeoxycholic acid opens promising therapeutic perspectives for SPG5 patients, possibly as in cerebrotendinous xanthomatosis.

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Shaibani, Aziz. Deformities. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0024.

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Deformities are important markers for congenital and hereditary neuromuscular disorders. Kyphosis, scoliosis, Pes Cavus, for example, are common in CMT and hereditary ataxias. Deformities may also result from long-term weakness and asymmetry. Chronic neuropathies with distal weakness may lead to gradual changes in the height of feet arches. A high foot arche that is corrected with wight bearing or manually, is usually not congenital. Other types of deformities are related to connective tissue pathology, which can be associated with neuromuscular disorders, for example multiple lipomatosis, scleroderma, contractures, nephrogenic systemic sclerosis, and so on. This chapter shows examples of these deformities. Musculoskeletal deformities may lead to entrapment neuropathies.

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Shaibani, Aziz. Deformities. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0024.

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Deformities are important markers for congenital and hereditary neuromuscular disorders. For example, kyphosis, scoliosis, and pes cavus are common in Charcot-Marie-Tooth (CMT) disease and hereditary ataxias. Deformities such as high feet arches may also result from long-time weakness and asymmetry. Other types of deformities may be related to connective tissue pathology, which can be associated with neuromuscular disorders. Examples include multiple lipomatosis, scleroderma, and nephrogenic systemic sclerosis (NSS). Charcot joint is a result of lack of proprioceptive sensation and is usually associated with severe chronic neuropathy. Deformity of the nose can result from syphilis and leprosy. This chapter shows examples of these deformities and their treatments.

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Capítulos de libros sobre el tema "Hereditary ataxia"

Koeppen, Arnulf H. y David I. Turok. "The Cerebellar Cortex and the Dentate Nucleus in Hereditary Ataxia". En Foundations of Neurology, 205–36. Boston, MA: Springer US, 1992. http://dx.doi.org/10.1007/978-1-4615-3510-2_9.

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Metze, Dieter, Vanessa F. Cury, Ricardo S. Gomez, Luiz Marco, Dror Robinson, Eitan Melamed, Alexander K. C. Leung et al. "Hereditary Congenital Spinocerebellar Ataxia Accompanied by Congenital Cataract and Oligophrenia". En Encyclopedia of Molecular Mechanisms of Disease, 830. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6177.

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Michael, Garone y Michael B. Morgan. "Lethal Hereditary Vascular Disorders: Osler-Weber-Rendu Syndrome, Ataxia-Telangiectasia, and Fabry’s Disease". En Deadly Dermatologic Diseases, 97–101. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-31566-9_15.

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Arias Merino, Greta, Germán Sánchez Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz y Verónica Alonso Ferreira. "Mortality Statistics and their Contribution to Improving the Knowledge of Rare Diseases Epidemiology: The Example of Hereditary Ataxia in Europe". En Advances in Experimental Medicine and Biology, 521–33. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-67144-4_28.

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Schöls, L. y O. Rieß. "Hereditäre Ataxien". En Neurogenetik, 249–77. Berlin, Heidelberg: Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72074-1_19.

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Sorbi, Sandro y John P. Blass. "Mitochondrial Abnormalities in Hereditary Ataxias". En Foundations of Neurology, 391–401. Boston, MA: Springer US, 1992. http://dx.doi.org/10.1007/978-1-4615-3510-2_15.

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Wolf, Nicole I. "Spinozerebelläre Ataxien und hereditäre spastische Paraplegien". En Pädiatrie, 2545–47. Berlin, Heidelberg: Springer Berlin Heidelberg, 2020. http://dx.doi.org/10.1007/978-3-662-60300-0_258.

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Wolf, N. I. "Spinozerebelläre Ataxien und hereditäre spastische Paraplegien bei Kindern und Jugendlichen". En Pädiatrie, 1–6. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-642-54671-6_258-1.

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Wolf, Nicole I. "Spinozerebelläre Ataxien und hereditäre spastische Paraplegien bei Kindern und Jugendlichen". En Pädiatrie, 1–3. Berlin, Heidelberg: Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-642-54671-6_258-2.

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Wray, Shirley H. "The Cerebellum and its Syndromes". En Eye Movement Disorders in Clinical Practice, 333–39. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199921805.003.0009.

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discusses a wide range of cerebellar syndromes and links them to specific topographic areas of the cerebellum. The hereditary ataxic syndromes include spinocerebellar ataxia, the Louis-Bar syndrome, spastic ataxia of Charlevoix-Saguenay, and the syndrome of the dorsal vermis. Oculomotor syndromes of the cerebellum—the syndrome of the flocculus/paraflocculus (tonsil), characterized by downbeat nystagmus; the syndrome of the nodulus and uvula, resulting in periodic alternating nystagmus; the syndrome of the fastigial nucleus, responsible for saccadic dysmetria; and the pancerebellar syndrome, characterized by paraneoplastic opsoclonus or flutter—are illustrated by six case studies in this chapter.

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Actas de conferencias sobre el tema "Hereditary ataxia"

Veiga-Fernández, Amanda, Marina Díaz Perdigón, Mireia Bernal Claverol, María Ruiz Minaya, Irene Aracil Moreno, Camilo Galvis Isaza, Elsa Mendizábal Vicente y Santiago Lizarraga Bonelli. "194 Ataxia-teleangiectasia followed up in a hereditary gynaecological cancer unit of a tertiary hospital". En ESGO SoA 2020 Conference Abstracts. BMJ Publishing Group Ltd, 2020. http://dx.doi.org/10.1136/ijgc-2020-esgo.157.

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Pinto, Wladimir Bocca Vieira de Rezende, Bruno de Mattos Lombardi Badia, Igor Braga Farias, José Marcos Vieira de Albuquerque Filho, Roberta Ismael Lacerda Machado, Paulo Victor Sgobbi de Souza y Acary Souza Bulle Oliveira. "Expanding the neurological and imaging phenotype of women with adult-onset X- linked Adrenoleukodystrophy." En XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.019.

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Background: X-linked Adrenoleukodystrophy (X-ALD) represents a key inherited metabolic disorder in neurological practice, representing an important differential diagnosis in different neurological contexts. Symptomatic female patients have been scarcely studied in large cohorts. Objectives: Evaluation of clinical, laboratory and genetic findings from a Brazilian cohort of women with X-ALD. Methods, design and setting: We performed a retrospective observational study of clinical, biochemical, genetic, neuroimaging and neurophysiological aspects of 10 Brazilian female patients with X-linked Adrenoleukodystrophy under clinical follow-up at the Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of São Paulo (UNIFESP), São Paulo, Brazil. Results: Mean age at diagnosis was 46.2 years and at symptom-onset was 39 years. Female patients presented with spastic paraparesis and neurogenic bladder (60%), cognitive decline (50%), demyelinating sensorimotor polyneuropathy (40%), cerebellar ataxia (30%), epilepsy (20%), apraxia and psychotic symptoms (10%). The most common misdiagnosis were Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia. The main neuroimaging findings were corticospinal tract hyperintensity and cervical and thoracic spinal cord atrophy (60%), unspecific white matter changes (40%) and typical parieto-occipital leukodystrophy. All patients had abnormal profiles of plasma very-long chain fatty acids, all with elevated C26 levels and 80% with elevated C24 levels, but all with abnormally raised C26:C22 and C26:C24 ratio. The most common pathogenic variant observed was c.311G>A (p.Arg104His) (60%). Conclusions: Female patients with ABCD1 pathogenic variants must be carefully evaluated for neuropsychiatric disturbances and followed-up until elderly due to the common occurrence of variable motor, autonomic and sensory compromise.

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Albuquerque Filho, José Marcos Vieira de, Natália Merten Athayde, Alzira Alves de Siqueira Carvalho, Igor Braga Farias, Roberta Ismael Lacerda Machado y Marco Antônio Troccoli Chieia. "Familial ALS Type 25 – A Brazillian Case Serie". En XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.186.

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Introduction: Familial Amyotrophic Lateral Sclerosis (fALS) represent 5-10% of ALS patients. Different mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) cause Hereditary Spastic Paraplegia Type 10 (HSP10), Charcot-Marie-Tooth 2 (CMT2), Neonatal Intractable Myoclonus and more recently described fALS Type 25. Previous described phenotypes are very similar to the sporadic type, except from the long course of disease. Methods: We describe four Brazillian patients, under clinical follow-up on two Neuromuscular services with genetic diagnosis of fALS25. Results: Four diferent fALS25 are described. Two brothers and two unrelated patients, with distinct features, three males and one female, age range from 72 to 24; age of onset ranged from 62 to 22. The genetic mutations were the following: simple heterozygous pathogenic variant c.1651C>G (p. Leu551Val), simple heterozygous pathogenic variant c.2953G>A (p. Gly985Ser) and pathogenic variant c.484C>T (p.Arg162Trp); all of KIF5A gene (fALS25). Only one patient presented with similar phenoptype and age of onset as sporadic ALS (sALS), the two brothers presented the symptoms at the ages of 28 and 30, the female patient at 22. All patients still walk without assistence after the diagnosis. All patients showed classic superior and inferior motor neuron involvement signs, but one brother had a mild limb ataxia. The three younger patients had MRI with no specific findings, except from subtle cortical atrophy in one brother, and mild vermis and corpus callosum atrophy on the other brother. Only the female patient had negative familiar history. Conclusions: fALS25 should be suspected in patient with fALS and longer course disease. Mutations KIF5A gene must be remembered either in juvenile form of ALS.

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