Littérature scientifique sur le sujet « Hereditary ataxia »
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Articles de revues sur le sujet "Hereditary ataxia"
Lee, Jun Ho, Jaeho Kang, Yeoung deok Seo, Jeong Ik Eun, Hyunyoung Hwang, Sungyeong Ryu, Junseok Jang et Jinse Park. « A Familial Case Presented with Various Clinical Manifestations Caused by <i>OPA1</i> ; Mutation ». Journal of the Korean Neurological Association 41, no 1 (1 février 2023) : 60–63. http://dx.doi.org/10.17340/jkna.2023.1.11.
Texte intégralSpencer, Kristie A., et Mallory Dawson. « Dysarthria Profiles in Adults With Hereditary Ataxia ». American Journal of Speech-Language Pathology 28, no 2S (15 juillet 2019) : 915–24. http://dx.doi.org/10.1044/2018_ajslp-msc18-18-0114.
Texte intégralWallace, Stephanie E., et Thomas D. Bird. « Molecular genetic testing for hereditary ataxia ». Neurology : Clinical Practice 8, no 1 (25 janvier 2018) : 27–32. http://dx.doi.org/10.1212/cpj.0000000000000421.
Texte intégralWong, D., M. Dwinnel, M. Schulzer, M. Nimmo, B. R. Leavitt et S. D. Spacey. « Ataxia and the Role of Antigliadin Antibodies ». Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 34, no 2 (mai 2007) : 193–96. http://dx.doi.org/10.1017/s031716710000603x.
Texte intégralRosenberg, Roger N., et Abraham Grossman. « Hereditary Ataxia ». Neurologic Clinics 7, no 1 (février 1989) : 25–36. http://dx.doi.org/10.1016/s0733-8619(18)30826-0.
Texte intégralYang, Sirui, Weihong Xu, Shibo Li, Shicheng Liu, Honghua Lu, Xiaosheng Hao, Feiyong Jia et Guiling Xue. « Clinical and laboratory diagnosis of spinocerebellar ataxia type 3 in a large Chinese family ». Asian Biomedicine 5, no 1 (1 février 2011) : 57–62. http://dx.doi.org/10.5372/1905-7415.0501.006.
Texte intégralKaleağası, Hakan. « Autosomal Recessive Hereditary Ataxias Except Friedreich’s Ataxia ». Journal of Parkinson’s Disease and Movement Disorders 18, no 1-2 (14 octobre 2015) : 8–16. http://dx.doi.org/10.5606/phhb.dergisi.2015.02.
Texte intégralTaylor, M. J., W. Y. Chan-Lui et W. J. Logan. « Longitudinal Evoked Potential Studies in Hereditary Ataxias ». Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 12, no 2 (mai 1985) : 100–105. http://dx.doi.org/10.1017/s0317167100046783.
Texte intégralUrkasemsin, Ganokon, et Natasha J. Olby. « Canine Hereditary Ataxia ». Veterinary Clinics of North America : Small Animal Practice 44, no 6 (novembre 2014) : 1075–89. http://dx.doi.org/10.1016/j.cvsm.2014.07.005.
Texte intégralPinto, Wladimir Bocca Vieira de Rezende, José Luiz Pedroso, Paulo Victor Sgobbi de Souza, Marcus Vinícius Cristino de Albuquerque et Orlando Graziani Povoas Barsottini. « Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury : a mysterious clinical condition ». Arquivos de Neuro-Psiquiatria 73, no 10 (18 août 2015) : 823–27. http://dx.doi.org/10.1590/0004-282x20150119.
Texte intégralThèses sur le sujet "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.
Texte intégralHereditary 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.
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.
Texte intégralNicol, 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.
Texte intégralFinnsson, 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.
Texte intégralTsai, Ming-Ju, et 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.
Texte intégral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.
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.
Texte intégralSantos, Carolina Inácio dos. « Gene Suppression Therapy in Hereditary Cerebellar Ataxias ». Master's thesis, 2021. https://hdl.handle.net/10216/134636.
Texte intégralSantos, Carolina Inácio dos. « Gene Suppression Therapy in Hereditary Cerebellar Ataxias ». Dissertação, 2021. https://hdl.handle.net/10216/134636.
Texte intégralBessa, Maria Beatriz Guilherme Pinto. « Movement Disorders in Autosomal Dominant Hereditary Ataxias : A Literature Review ». Master's thesis, 2020. https://hdl.handle.net/10216/128385.
Texte intégralRuano, 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.
Texte intégralLivres sur le sujet "Hereditary ataxia"
J, Vinken P., Bruyn G. W, Klawans Harold L et Jong, J. M. B. V. de., dir. Hereditary neuropathies and spinocerebellar atrophies. Amsterdam : Elsevier Science, 1991.
Trouver le texte intégralPitt, Matthew. Pathophysiological correlations in neuropathies. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198754596.003.0004.
Texte intégralSybert, Virginia P. Disorders of the Dermis. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0005.
Texte intégralSybert, Virginia P. Disorders of the Dermis. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0005.
Texte intégralMochel, Fanny. Spastic Paraplegia Type 5. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0041.
Texte intégralShaibani, Aziz. Deformities. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199898152.003.0024.
Texte intégralShaibani, Aziz. Deformities. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0024.
Texte intégralChapitres de livres sur le sujet "Hereditary ataxia"
Koeppen, Arnulf H., et David I. Turok. « The Cerebellar Cortex and the Dentate Nucleus in Hereditary Ataxia ». Dans Foundations of Neurology, 205–36. Boston, MA : Springer US, 1992. http://dx.doi.org/10.1007/978-1-4615-3510-2_9.
Texte intégralMetze, 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 ». Dans 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.
Texte intégralMichael, Garone, et Michael B. Morgan. « Lethal Hereditary Vascular Disorders : Osler-Weber-Rendu Syndrome, Ataxia-Telangiectasia, and Fabry’s Disease ». Dans Deadly Dermatologic Diseases, 97–101. Cham : Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-31566-9_15.
Texte intégralArias Merino, Greta, Germán Sánchez Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz et Verónica Alonso Ferreira. « Mortality Statistics and their Contribution to Improving the Knowledge of Rare Diseases Epidemiology : The Example of Hereditary Ataxia in Europe ». Dans 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.
Texte intégralSchöls, L., et O. Rieß. « Hereditäre Ataxien ». Dans Neurogenetik, 249–77. Berlin, Heidelberg : Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72074-1_19.
Texte intégralSorbi, Sandro, et John P. Blass. « Mitochondrial Abnormalities in Hereditary Ataxias ». Dans Foundations of Neurology, 391–401. Boston, MA : Springer US, 1992. http://dx.doi.org/10.1007/978-1-4615-3510-2_15.
Texte intégralWolf, Nicole I. « Spinozerebelläre Ataxien und hereditäre spastische Paraplegien ». Dans Pädiatrie, 2545–47. Berlin, Heidelberg : Springer Berlin Heidelberg, 2020. http://dx.doi.org/10.1007/978-3-662-60300-0_258.
Texte intégralWolf, N. I. « Spinozerebelläre Ataxien und hereditäre spastische Paraplegien bei Kindern und Jugendlichen ». Dans Pädiatrie, 1–6. Berlin, Heidelberg : Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-642-54671-6_258-1.
Texte intégralWolf, Nicole I. « Spinozerebelläre Ataxien und hereditäre spastische Paraplegien bei Kindern und Jugendlichen ». Dans Pädiatrie, 1–3. Berlin, Heidelberg : Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-642-54671-6_258-2.
Texte intégralWray, Shirley H. « The Cerebellum and its Syndromes ». Dans Eye Movement Disorders in Clinical Practice, 333–39. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199921805.003.0009.
Texte intégralActes de conférences sur le sujet "Hereditary ataxia"
Veiga-Fernández, Amanda, Marina Díaz Perdigón, Mireia Bernal Claverol, María Ruiz Minaya, Irene Aracil Moreno, Camilo Galvis Isaza, Elsa Mendizábal Vicente et Santiago Lizarraga Bonelli. « 194 Ataxia-teleangiectasia followed up in a hereditary gynaecological cancer unit of a tertiary hospital ». Dans ESGO SoA 2020 Conference Abstracts. BMJ Publishing Group Ltd, 2020. http://dx.doi.org/10.1136/ijgc-2020-esgo.157.
Texte intégralPinto, 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 et Acary Souza Bulle Oliveira. « Expanding the neurological and imaging phenotype of women with adult-onset X- linked Adrenoleukodystrophy. » Dans XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.019.
Texte intégralAlbuquerque Filho, José Marcos Vieira de, Natália Merten Athayde, Alzira Alves de Siqueira Carvalho, Igor Braga Farias, Roberta Ismael Lacerda Machado et Marco Antônio Troccoli Chieia. « Familial ALS Type 25 – A Brazillian Case Serie ». Dans XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.186.
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