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Dissertations / Theses on the topic 'Cerebellar ataxias'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

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 systémati

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2

Wang, Xiaowei. "Therapeutic potential of modulators of cannabinoid receptors in cerebellar ataxias." Thesis, University of Reading, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.553006.

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Cerebellar ataxias (CAs) are a group of motor disorders associated with Purkinje cell (PC) degeneration for which no effective therapeutic treatment exists. Many studies have suggested that modulation of the body's endocannabinoid system may be of use in treatment of diseases involving changes to neuronal excitability. For example, hyperexcitability has been proposed as a mechanism underlying PC degeneration in CAs. In this thesis, electrophysiological, and also biochemical approaches have been used to investigate cannabinoid CBl receptor-mediated signalling in the cerebellum. This work was ex

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3

Perkins, Jon Davis. "Swayed by sound : sonic guidance as a neurorehabilitation strategy in the cerebellar ataxias." Thesis, University of Edinburgh, 2014. http://hdl.handle.net/1842/30642.

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4

Smith, Eric D. S. M. Massachusetts Institute of Technology. "Robotic compensation of cerebellar ataxia." Thesis, Massachusetts Institute of Technology, 2007. http://hdl.handle.net/1721.1/42311.

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Thesis (S.M.)--Massachusetts Institute of Technology, Dept. of Mechanical Engineering; and, (S.M.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 2007.<br>Includes bibliographical references (p. 115-117).<br>The cerebellum is believed to play a role in dynamic compensation in the human motor control system. When it is damaged, subjects make clumsy movements with reduced acceleration, increased overshoot, and swerving in multi-joint movements. These errors, which are referred to clinically as ataxia, are consistent with failing to compensate for th

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5

Balastik, Martin. "Trim2 mutant mice as a model for cerebellar ataxia." Doctoral thesis, [S.l.] : [s.n.], 2003. http://deposit.ddb.de/cgi-bin/dokserv?idn=975117025.

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6

Shanmugarajah, P. D. "An investigation into the role of autoimmunity in cerebellar ataxia." Thesis, University of Sheffield, 2015. http://etheses.whiterose.ac.uk/9605/.

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7

Hourez, Raphaël. "Dysfonction des cellules de Purkinje du cervelet dans l'ataxie spino-cérébelleuse de type 1 (SCA1), le syndrome alcoolique foetal et lors de la modulation d'expression de Nogo-A." Doctoral thesis, Universite Libre de Bruxelles, 2007. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/210583.

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8

Pan, Ying-Hui Annie. "An Investigation into the Molecular Genetics and Pathology of Cerebellar Abiotrophy in Australian Working Kelpie Dogs." Thesis, The University of Sydney, 2017. http://hdl.handle.net/2123/17903.

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Australian working Kelpie dogs are affected with an autosomal recessive form of cerebellar ataxia (cerebellar abiotrophy, CA) that is characterised by a degeneration of neurons in the cerebellar cortex. The clinical signs of CA include cerebellar ataxia and head tremor etc., with a clinical onset of 4 to 16 weeks old (early-onset), however a later age of onset for some dogs (later-onset) is reported in this study. Degeneration of Purkinje cells and granule cells, and activation of astrocytes were present throughout the cerebellum of all early-onset and later-onset CA affected working Kelpie do

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9

Chintawar, Satyan. "Neural precursor cells: interaction with blood-brain barrier and neuroprotective effect in an animal model of cerebellar degeneration." Doctoral thesis, Universite Libre de Bruxelles, 2009. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/210202.

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Adult neural precursor cells (NPCs) are a heterogeneous population of mitotically active, self-renewing multipotent cells of both adult and developing CNS. They can be expanded in vitro in the presence of mitogens. The B05 transgenic SCA1 mice, expressing human ataxin-1 with an expanded polyglutamine tract in cerebellar Purkinje cells (PCs), recapitulate many pathological and behavioral characteristics of the neurodegenerative disease spinocerebellar ataxia type 1 (SCA1), including progressive ataxia and PC loss. We transplanted neural precursor cells (NPCs) derived from the subventricular zon

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10

Heusel-Gillig, Lisa, and Courtney D. Hall. "Effectiveness of Physical Therapy Intervention in Patients with Degenerative Cerebellar Ataxia." Digital Commons @ East Tennessee State University, 2013. https://dc.etsu.edu/etsu-works/571.

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11

Kirchner, Hanni. "Cerebelläre Ataxie und bilaterale Vestibulopathie." Diss., Ludwig-Maximilians-Universität München, 2013. http://nbn-resolving.de/urn:nbn:de:bvb:19-164181.

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Aus den Erfahrungen in der Schwindelambulanz des Universitätsklinikums München, Campus Großhadern, und vorangegangener Publikationen [46, 62] hatten sich Hinweise auf einen möglichen pathophysiologischen Zusammenhang zwischen dem Bestehen einer (idopathischen) bilateralen Vestibulopathie (BV) und dem Auftreten cerebellärer Symptome ergeben. Nach Zingler et. al 2007 wiesen 25% aller Patienten mit BV ebenfalls cerebelläre Symptome auf und von diesen weiterhin 32% zusätzliche Anzeichen einer peripheren Polyneuropathie (PNP). Dabei waren vor allem die Patienten mit idiopathischer BV von diesem Syn

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12

Torrez, Pasesa Pascuala Quispe. "Estudo clínico-epidemiológico, laboratorial e de vulnerabilidade dos acidentes escorpiônicos atendidos no Hospital Municipal de Santarém - Pará." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/5/5134/tde-08092016-143421/.

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Introdução: Escorpionismo é um problema de saúde no Brasil e em outras regiões do mundo. Em 2015, no Brasil, foram relatados 74.598 acidentes e 119 mortes. Neste estudo, foram descritos aspectos clínicos, epidemiológicos, laboratoriais e de vulnerabilidade nestes acidentes. Métodos: Trata-se de estudo clínico prospectivo e observacional conduzido no Hospital Municipal de Santarém (HMS), de Abril de 2008 a Janeiro de 2014. Os pacientes incluídos no estudo foram admitidos pelo autor e não representam o total de pacientes internados no HMS. Além disso, foi realizado estudo qualitativo com base te

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13

Keiser, Megan Kathryn. "Gene therapies for spinocerebellar ataxia type 1." Diss., University of Iowa, 2013. https://ir.uiowa.edu/etd/2540.

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Spinocerebellar ataxia type 1 (SCA1) is an adult onset, autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in ataxin-1, which encodes the ataxin-1 protein. SCA1 is one of nine polyQ-expansion gain-of-function diseases which includes Huntington's disease, spinal-bulbar muscular atrophy, dentatorubral-pallidoluysian atrophy and other ataxias. Clinical symptoms of SCA1 include ataxia, dysarthria, ophthalmoparesis, muscle wasting, and extrapyramidal and bulbar dysfunction. Cerebellar Purkinje cells (

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14

Twells, Rebecca Christina Joan. "Molecular genetic study of autosomal dominant cerebellar ataxia in pedigrees from Cuba and Thailand." Thesis, Imperial College London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321653.

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15

Cassidy, Elizabeth Emma. "An exploration of the lived experience of progressive cerebellar ataxia : an interpretative phenomenological analysis." Thesis, Brunel University, 2012. http://bura.brunel.ac.uk/handle/2438/7547.

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Background and Purpose: Progressive cerebellar ataxia is a rare neurological condition characterised by uncoordinated movement, and impaired speech articulation. Rehabilitation and physiotherapy in particular, form the cornerstone of healthcare intervention. Little qualitative research has been undertaken to understand the subjective experience of this complex condition. This study explored the experience of progressive cerebellar ataxia, physiotherapy and physiotherapy services from the perspective of people living with this condition. Method: Interpretative Phenomenological Analysis underpin

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16

Coutelier, Marie. "Remodelling the genetics of spinocerebellar entities. New genes, phenotypes, and transmission modes lead to new concepts." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066070.

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Les ataxies (HCA) et paraparésies spastiques héréditaires constituent les deux extrémités du spectre des entités neurodégénératives spinocérébelleuses (SCE). Elles sont marquées par une forte hétérogénéité clinique, avec des signes associés variés, et génétique. Elles peuvent se transmettre sur tous les modes d'hérédité, et des mutations ont été décrites dans une myriade de gènes. Les SCE sont donc une entité qui bénéficie particulièrement des avancées technologiques de la Nouvelle Génération de Séquençage. Ce travail décrit des résultats obtenus sur de grandes cohortes, par séquençage de pane

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17

Šuminaite, Daumante. "Elucidating the reversibility of ataxia." Thesis, University of Edinburgh, 2017. http://hdl.handle.net/1842/28911.

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Heterozygous and recently identified homozygous mutations in the SPTBN2 gene, encoding b-III spectrin, are implicated in spinocerebellar ataxia type 5 (SCA5) and spectrin-associated autosomal recessive cerebellar ataxia type 1 (SPARCA1), respectively. Our mouse model, lacking b-III spectrin (KO), mimics the progressive human phenotype displaying motor deficiencies as well as reduced Purkinje cell firing frequency followed by dendritic tree degeneration and cell death. The aims of this study were to evaluate progression of Purkinje cell degeneration following loss of b-III spectrin function and

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18

Jacquelin, Cécile. "Caractérisation phénotypique, comportementale et neurochimique, de la souris mutante ataxique scrambler (Dab1scm)." Thesis, Université de Lorraine, 2015. http://www.theses.fr/2015LORR0345.

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La souris scrambler (Dab1scm) est un mutant ataxique cérébelleux qui présente une mutation naturelle du gène mdab1, codant pour une protéine intracellulaire nécessaire à la voie de signalisation de la rééline. Cette protéine joue un rôle crucial dans la mise place et la plasticité des structures laminées telles que le cortex cérébral, l’hippocampe ou le cervelet. Notre objectif a été de caractériser le phénotype comportemental et neurochimique de la souris scrambler au cours du développement post-natal et à l’âge adulte. Les premiers signes de l’ataxie cérébelleuse sont observables dès 8 jours

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19

Gaddoni, Luca. "Disordini posturali nel paziente con atassia post-stroke cerebellare e post trauma cerebellare, indagine sugli interventi riabilitativi: Scoping Review." Bachelor's thesis, Alma Mater Studiorum - Università di Bologna, 2021. http://amslaurea.unibo.it/24563/.

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Background: l’atassia è il segno più rilevante della costellazione semeiologica cerebellare. Il disequilibrio è chiaramente evidente nella marcia e quando si pone il paziente in stazione eretta. Tra le patologie che causano atassia vi sono lo stroke cerebellare e i traumi cerebellari. Indagare sui migliori trattamenti possibili per i soggetti colpiti da queste condizioni patologiche può essere utile per inquadrare le proposte riabilitative. Obiettivo: l’obiettivo di questa Scoping Review è quello di fornire una panoramica sulle attuali evidenze che riguardano i principi di trattamento volti a

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20

Licitra, Floriana. "Pathophysiological and molecular characterization of a mouse model of ARCA2, a recessive cerebellar ataxia associated to Coenzyme Q10 deficiency." Thesis, Strasbourg, 2013. http://www.theses.fr/2013STRAJ096/document.

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ARCA2 est une ataxie récessive qui se caractérise par une atrophie du cervelet et un léger déficit en coenzyme Q10. Des mutations dans le gène ADCK3 ont été récemment identifiées comme étant la cause d’ARCA2. ADCK3 code pour une kinase mitochondriale atypique, qui pourrait être impliquée dans la biosynthèse du coenzyme Q10. L’objectif de mon projet de thèse était d’élucider la physiopathologie d’ARCA2 en utilisant le modèle murin knockout pour Adck3. J’ai ainsi pu montrer que les souris Adck3-/- reproduisent de nombreux symptômes associés à ARCA2 et constituent un bon modèle pour étudier ARCA2

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21

Nagaya, Masahiro, Teruhiko Kachi, Takako Yamada, and Yasunori Sumi. "Videofluorographic observations on swallowing in patients with dysphagia due to neurodegenerative diseases." Nagoya University School of Medicine, 2004. http://hdl.handle.net/2237/5400.

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22

Santos, Mariana Marczyk. "Transplante de células tronco de medula óssea em modelo experimental de ataxia cerebelar em ratos." Pontifícia Universidade Católica do Rio Grande do Sul, 2010. http://hdl.handle.net/10923/4370.

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Made available in DSpace on 2013-08-07T19:03:59Z (GMT). No. of bitstreams: 1 000422803-Texto+Completo-0.pdf: 2994221 bytes, checksum: 7c29345e7e01926a972683bfed251f7d (MD5) Previous issue date: 2010<br>The main aim of this study is to assess the potential therapeutic benefits of a mice bone marrow mononuclear cell (BMMC) transplant into an ataxia model in rats. To do so, we infused ibotenic acid bilaterally into the fastigial cerebellar nuclei of Wistar rats using a stereotaxic procedure. As control animals, we infused saline instead of ibotenic acid (sham group) or submitted some animals to

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23

Stephenson, Jeannie B. "Longitudinal Quantitative Analysis of Gait and Balance in Friedreich's Ataxia." Scholar Commons, 2014. https://scholarcommons.usf.edu/etd/5623.

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Friedreich's Ataxia (FA) is an autosomal-recessive, neurodegenerative disease characterized by progressive lower extremity muscle weakness and sensory loss, balance deficits, limb and gait ataxia, and dysarthria. FA is considered a sensory ataxia because the dorsal root ganglia and spinal cord dorsal columns are involved early in the disease, whereas the cerebellum is affected later. Balance deficits and gait ataxia are often evaluated clinically and in research using clinical rating scales. Recently, quantitative tools such as the Biodex Balance System SD and the GAITRite Walkway System have

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Santos, Mariana Marczyk. "Transplante de c?lulas tronco de medula ?ssea em modelo experimental de ataxia cerebelar em ratos." Pontif?cia Universidade Cat?lica do Rio Grande do Sul, 2010. http://tede2.pucrs.br/tede2/handle/tede/1561.

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Made available in DSpace on 2015-04-14T13:34:54Z (GMT). No. of bitstreams: 1 422803.pdf: 2994221 bytes, checksum: 7c29345e7e01926a972683bfed251f7d (MD5) Previous issue date: 2010-03-12<br>O objetivo deste trabalho ? avaliar o potencial do transplante de c?lulas mononucleares da medula ?ssea (CMMO) de camundongos reverter o d?ficit motor em um modelo de ataxia em ratos. Para isto, utilizou-se a cirurgia estereot?xica a fim de infundir ?cido ibot?nico bilateralmente no n?cleo fastigial do cerebelo de ratos Wistar. Nos animais controle, infundiu-se salina ao inv?s de ?cido ibot?nico (sham) ou s

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25

Bär, Hermann. "Ein Fall von cerebellarer Ataxie und Dysarthrie UB Freiburg, Hs. 1408; Autograph /." Freiburg i. Br. : Univ.-Bibl, 2006. http://www.manuscripta-mediaevalia.de/hs/katalogseiten/HSK0547%5Fb246%5Fjpg.htm.

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26

Jaeg, Tiphaine. "Exploring the mitochondrial function in muscle and molecular dysregulation in cerebellum in a mouse model for ARCA2, a recessive ataxia with coenzyme Q10 deficiency." Thesis, Strasbourg, 2017. http://www.theses.fr/2017STRAJ082/document.

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ARCA2 est une ataxie autosomique récessive rare, caractérisée par une atrophie du cervelet et un léger déficit en Coenzyme Q10 (CoQ). La majorité des patients présentent des signes neurologiques supplémentaires comme l’épilepsie ou l’intolérance à l’exercice. La maladie est due à des mutations dans le gène COQ8A qui semble encoder une protéine kinase-like atypique, impliquée dans la biosynthèse du CoQ. Pour comprendre les mécanismes physiopathologiques, une souris Coq8a knock-out (KO) constitutif a été générée et récapitule les symptômes observés chez les patients. Le but de ce travail de thès

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27

Kirchner, Hanni [Verfasser], and Michael [Akademischer Betreuer] Strupp. "Cerebelläre Ataxie und bilaterale Vestibulopathie : Definition eines neuen Syndroms / Hanni Kirchner. Betreuer: Michael Strupp." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2013. http://d-nb.info/1046503162/34.

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28

Karam, Alice. "Retinal ciliopathies in Huntington's and SCA7 disorders." Thesis, Strasbourg, 2013. http://www.theses.fr/2013STRAJ069/document.

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Les maladies à polyglutamines (polyQ) sont des maladies neurodégénératives héréditaires dominantes causées par une expansion de CAG traduite en longue expansion de polyglutamine dans la protéine correspondante. Ces maladies comprennent l’ataxie spinocérébélleuse 7 (SCA7) et la maladie de Huntington (MH) causées par une expansion de polyQ dans les protéines ataxine-7 (ATXN7) et huntingtine (htt), respectivement. Les souris SCA7 et MH développent des rétinopathies similaires suggérant des pathomécanismes communs toujours inexpliqués. Durant ma thèse, j’ai trouvé qu’en réponse à la toxicité des p

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29

Dulneva, Anna. "Investigating the effects of a point mutation in the TRPC3 channel, cause of cerebellar ataxia in Moonwalker mice, on the Purkinje cells in mice." Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:fcb2e1ac-fbc6-4948-bc71-27f905ee09e7.

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The Moonwalker (Mwk) mouse is a mouse model of cerebellar ataxia that harbours a point mutation in the Trpc3 gene. TRPC3 is a non-selective cation channel, most highly expressed in the Purkinje cells of the cerebellum. The gain-of-function mutation in the TRPC3 protein affects the development of Purkinje cell dendrites by reducing their branching, and also leads to abnormal motor coordination and cerebellar ataxia in Mwk mice at the age of 3 weeks. The aim of this thesis was to determine how the mutation in the TRPC3 channel results in the observed pathology. Proper function of the TRPC3 chann

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30

Markic, Goran. "Association between transversal dentoskeletal dimensions and Class II severity /." [S.l.] : [s.n.], 2009. http://opac.nebis.ch/cgi-bin/showAbstract.pl?sys=000281109.

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Hancock, Janelle Louise. "Biochemical characterization of Aprataxin, the protein deficient in Ataxia with Oculomotor Apraxia type 1." Thesis, Queensland University of Technology, 2008. https://eprints.qut.edu.au/28603/1/Janelle_Hancock_Thesis.pdf.

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Neurodegenerative disorders are heterogenous in nature and include a range of ataxias with oculomotor apraxia, which are characterised by a wide variety of neurological and ophthalmological features. This family includes recessive and dominant disorders. A subfamily of autosomal recessive cerebellar ataxias are characterised by defects in the cellular response to DNA damage. These include the well characterised disorders Ataxia-Telangiectasia (A-T) and Ataxia-Telangiectasia Like Disorder (A-TLD) as well as the recently identified diseases Spinocerebellar ataxia with axonal neuropathy Type 1 (S

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Hancock, Janelle Louise. "Biochemical characterization of Aprataxin, the protein deficient in Ataxia with Oculomotor Apraxia type 1." Queensland University of Technology, 2008. http://eprints.qut.edu.au/28603/.

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Neurodegenerative disorders are heterogenous in nature and include a range of ataxias with oculomotor apraxia, which are characterised by a wide variety of neurological and ophthalmological features. This family includes recessive and dominant disorders. A subfamily of autosomal recessive cerebellar ataxias are characterised by defects in the cellular response to DNA damage. These include the well characterised disorders Ataxia-Telangiectasia (A-T) and Ataxia-Telangiectasia Like Disorder (A-TLD) as well as the recently identified diseases Spinocerebellar ataxia with axonal neuropathy Type 1 (S

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33

Brodbeck, Jens. "Functional aspects of a mutation in the Î±2[delta]-2 Calcium channel subunit of the ducky mouse, a model for absence epilepsy and cerebellar ataxia." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.271095.

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Al, Sagheer Tareq Mohammad. "Déterminants moteurs des troubles du spectre autistiques (TSA)." Thesis, Poitiers, 2017. http://www.theses.fr/2017POIT2311.

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Les troubles du spectre de l'autisme (TSA) sont des troubles neurodéveloppementaux associés à des déficits persistants dans la communication sociale et à des comportements répétitifs. Notre travail est basé sur l’exploration des troubles moteurs associés à cette pathologie avec comme hypothèse de travail la possibilité que cette approche puisse offrir des éléments de diagnostic précoce. Pour cela, nous avons utilisé deux modèles animaux de toxicité prénatale (E12,5) chez la souris suite à l’administration d’un agent antiépileptique, l'acide valproïque (VPA), ou d’un analogue synthétique de l'A

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35

Lessard, Isabelle. "Développement et validation de l’échelle de gravité de l’ataxie récessive spastique de Charlevoix-Saguenay (DSI-ARSACS) : section cérébelleuse." Mémoire, Université de Sherbrooke, 2016. http://hdl.handle.net/11143/8165.

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Résumé : Introduction : L’ataxie récessive spastique de Charlevoix-Saguenay (ARSCS) est une maladie neuromusculaire héréditaire rare qui affecte notamment les voies spinocérébelleuses. Elle est caractérisée par une triple composante de signes et symptômes incluant l’ataxie et la dysarthrie (atteintes cérébelleuses), la spasticité aux membres inférieurs (atteintes pyramidales) et une faiblesse distale qui engendre des difficultés de préhension (atteintes neuropathiques). Des avancées récentes permettent de croire que des essais thérapeutiques seront bientôt possibles. Dans ce contexte, il est n

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Naeije, Gilles. "Insights into the neural bases of tactile change detection from magnetoencephalography." Doctoral thesis, Universite Libre de Bruxelles, 2018. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/268050.

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The objectives of my PhD were to identify the spatial and the temporal dynamics of the brain areas involved in tactile change detection as well as the neural mechanisms responsible for the processing of tactile change detection. To that aim, three specific MEG studies were performed; each of them is addressing specific research aims.The first study investigated the spatiotemporal dynamics of the multilevel cortical processing of tactile change detection in human healthy subjects. This study disclosed a hierarchical organization from unimodal early tactile change detection at secondary somatose

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Ciucci, Francesca. "Insulin-like Growth Factor 1 (IGF-1) mediates the effects of enriched environments on visual system development." Doctoral thesis, Scuola Normale Superiore, 2007. http://hdl.handle.net/11384/85967.

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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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40

BARCA, EMANUELE. "The Role of Mitochondria in Cerebellar Ataxias." Doctoral thesis, 2017. http://hdl.handle.net/11570/3116670.

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Cerebellar ataxias (CAs) are a group of heterogeneous disorders clinically characterized by lack of motor coordination. CAs can be caused by acute structural cerebellar damage or by progressive cerebellar degeneration, usually linked to an underlining genetic metabolic disorder. CAs due to genetic alterations, also referred as primary CAs (PCAs), are usually progressive neurodegenerative disorders with increased disability along the disease course. Because PCAs usually affect young adults and impair motor and cognitive function, the impact on quality of life is substantial. Primary CAs are

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Huang, Fang-Yi, and 黃方沂. "Effects of Virtual Reality-Based Training in Cerebellar Ataxia." Thesis, 2015. http://ndltd.ncl.edu.tw/handle/64878827724920167061.

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碩士<br>國立陽明大學<br>物理治療暨輔助科技學系<br>103<br>Background and purpose: Virtual reality (VR) provides benefits in motor learning due to repetitive practice, feedback on knowledge of results/performance, and increasing motivation. Studies showed that VR training can result in better motor performance in subjects with stroke and Parkinson's disease as compared with conventional physiotherapy. Cerebellar disease is one of the neurological diseases that can cause the movement disorder. Individuals with cerebellar ataxia demonstrate poor coordination, motor control, and functional performance. However, effec

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McGraw, Sabrina Nicole. "Localization of the genetic defect in a canine cerebellar ataxia." 2004. http://purl.galileo.usg.edu/uga%5Fetd/mcgraw%5Fsabrina%5Fn%5F200405%5Fms.

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Chang, Chun-Ping, and 張純萍. "Investigation of two cerebellar medulloblastoma cell lines as a system to study the cerebellar ataxia related proteins." Thesis, 2008. http://ndltd.ncl.edu.tw/handle/63527587562684568308.

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碩士<br>國立陽明大學<br>生命科學暨基因體科學研究所<br>96<br>Autosomal-dominant spinocerebellar ataxias (SCAs) is a group of heterogeneous neurodegenerative diseases typically characterized by cerebellar Purkinje cell degeneration. Our previous studies have identified SPTA1 (spectrin, alpha, erythrocytic 1), erythroid α-spectrin, as a possible candidate gene for SCA type 22. Prior to the generation of animal models, we used medulloblastoma cell lines to investigate the function of SPTA1 and the gene for SCA type 5, SPTBN2 (spectrin, beta, non-erythrocytic 2), was used as a positive control. By using RT-PCR, express

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Šalomová, Martina. "Změny motorických funkcí u myšího modelu cerebelární degenerace v průběhu ontogeneze." Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-367899.

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The cerebellum affects a number of important and complex processes in the organism. It ensures coordination, motor learning and plays an important role in cognitive and affective functions. In the case of cerebellar degeneration, we find not only the movement disorders but also behavioral abnormalities, collectively referred to as cognitive-affective syndrome. The aim of this work was to investigate motor functions during ontogenesis in animal models of hereditary cerebellar degeneration - mutant mice Lurcher and Purkinje cell degeneration using the device for quantitative gait analysis and ro

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Balastik, Martin [Verfasser]. "Trim2 mutant mice as a model for cerebellar ataxia / submitted by Martin Balastik." 2003. http://d-nb.info/975117025/34.

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Cai-Ying, He, and 何采穎. "Molecular mechanisms underlying polyglutamine-expanded ataxin-7-induced cerebellar neuronal death." Thesis, 2006. http://ndltd.ncl.edu.tw/handle/78118779463931512689.

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碩士<br>長庚大學<br>基礎醫學研究所<br>94<br>Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disease caused by mutant polyglutamine-expanded ataxin-7. Ataxin-7 is a novel protein of unknown function and widely distributed in the brain and peripheral tissues. Wild-type ataxin-7 contains 4-35 glutamines at the N-terminal domain, polyglutamine tract of disease- causing ataxin-7 expands to 37-306 glutamines. Despite the wide distribution of ataxin-7 in the brain, SCA7 neurodegeneration is only prominent in the cerebellum, pons, inferior olive, anterior horn of spinal cord and ret

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Turcotte, Gauthier Maude. "Étude clinique et génétique d’une nouvelle forme d’ataxie spinocérébelleuse pure associée à l’Érythrokératodermie." Thèse, 2010. http://hdl.handle.net/1866/4281.

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Nous présentons ici la description clinique et génétique d’un syndrome neurocutané unique. Le laboratoire du Dr Cossette a entrepris la caractérisation clinique et génétique d'une famille canadienne-française qui a été identifiée par les Drs Giroux et Barbeau en 1972 et qui comprend plus de 100 personnes sur six générations. Les membres atteints de cette famille présentent des lésions typiques d'érythrokératodermie (EK) (OMIM 133190, EKV1 et EKV2), associées à une ataxie spinocérébelleuse pure. Dans cette famille, l'ataxie est caractérisée par des troubles de la coordination et de la démarche

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Mukherjee, Chaitali. "Functional analysis of the CNS-specific F-box protein FBXO41 in cerebellar development." Doctoral thesis, 2015. http://hdl.handle.net/11858/00-1735-0000-0023-9648-1.

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Drdáková, Lenka. "Vyšetření mozečkových funkcí u pacientů se skoliózou." Master's thesis, 2011. http://www.nusl.cz/ntk/nusl-313995.

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Purpose: The aim of this research was to determine whether there is a difference in the presence of minimal cerebellar signs, hypermobility and dyspraxia in the group of patients with idiopathic scoliosis (IS) and a control group of individuals without IS. Methods: 11 patients have been selected for this research with IS and 11 individuals without IS as a control group. The International Cooperative Ataxia Rating Scale (ICARS) was used for examination of cerebellar signs. Hypermobility was evaluated with ten tests according to Janda. The presence of pendulum reflexes was determined by examinat

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Kodríková, Kateřina. "Vliv rehabilitace elektrotaktilní stimulací jazyka na stabilitu stoje a chůze u pacientů s degenerativní cerebelární ataxií." Master's thesis, 2011. http://www.nusl.cz/ntk/nusl-298001.

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INTRODUCTION This graduation theses considers with the influence of rehabilitation by electrotactile stimulation of the tongue on stability of stance and gait in patients with degenerative cerebellar ataxia. Electrotactile stimulation of the tongue is an innovative method based on biofeedback principle, which uses additive sensory information about the position of the head to train the postural stability METHOD We used this method in six patients (four men and two women) with this disease. Patients went through intensive twelve-day therapy. The duration of the lessons was 30 minutes twice a da

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