Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
Journal of Medical Case Reports, 2023 Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala +4 more
doaj +1 more source
Phenotypic and genetic aspects of hereditary ataxia in dogs
Journal of Veterinary Internal Medicine, 2023 Hereditary ataxias are a large group of neurodegenerative diseases that have cerebellar or spinocerebellar dysfunction as core feature, occurring as an isolated sign or as part of a syndrome.
Kimberley Stee +6 more
doaj +1 more source
Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source
Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. [PDF]
, 2012 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited disorder, which is caused by a pathological expansion of a polyglutamine (polyQ) tract in the coding region of the ATXN2 gene.
Hansen, Stephen T +3 more
core +1 more source
Retração palpebral não é um sinal patognomônico da doença de Machado-Joseph no contexto das ataxias espinocerebelares [PDF]
, 2014 Universidade Federal de São Paulo (UNIFESP) Unidade Ataxia Departamento de NeurologiaUNIFESP, Unidade Ataxia Depto.
Albuquerque, Marcus Vinicius Cristino +4 more
core +7 more sources
The differential diagnosis of chorea [PDF]
, 2007 Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
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Hereditary Cerebellar Ataxias: A Korean Perspective [PDF]
Journal of Movement Disorders, 2015 Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements.
Ji Sun Kim, Jin Whan Cho
doaj +1 more source
Non spontaneous saccadic movements identification in clinical electrooculography using machine learning [PDF]
, 2015 In this paper we evaluate the use of the machine learning algorithms Support Vector Machines, K-Nearest Neighbors, CART decision trees and Naive Bayes to identify non spontaneous saccades in clinical electrooculography tests.
Becerra-García, Roberto Antonio +8 more
core +1 more source
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics [PDF]
, 2013 Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor. The onset of
Fujioka Shinsuke +2 more
core +1 more source
ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice [PDF]
, 2012 Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)31. This is thought to mediate toxic gain-of-function by protein aggregation and to affect RNA processing ...
Auburger, Georg +8 more
core +3 more sources