Results 31 to 40 of about 83,390 (218)
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
Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families
Clinics, 2012 OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene.
Hélio A. G. Teive +6 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
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
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Nature Communications, 2020 Spinocerebellar ataxias 17 (SCA17) is caused by polyglutamine (polyQ) expansion in the TATA box-binding protein (TBP). The selective neurodegeneration in the cerebellum in SCA17 raises the question of why ubiquitously expressed polyQ proteins can cause ...
Qiong Liu +10 more
semanticscholar +1 more source
The Spinocerebellar Ataxias [PDF]
Journal of Neuro-Ophthalmology, 2009 Slowly progressive ataxia accompanied by cerebellar degeneration is often genetic in origin. The past 15 years have witnessed a revolution in our understanding of the causes of dominantly inherited ataxias, now known as the spinocerebellar ataxias (SCAs). Nearly 30 distinct genetic causes of SCA are known, numbered chronologically in order of discovery.
openaire +2 more sources
Gene Deregulation and Underlying Mechanisms in Spinocerebellar Ataxias With Polyglutamine Expansion
Frontiers in Neuroscience, 2020 Polyglutamine spinocerebellar ataxias (polyQ SCAs) include SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17 and constitute a group of adult onset neurodegenerative disorders caused by the expansion of a CAG repeat sequence located within the coding region of ...
A. Niewiadomska-Cimicka +2 more
semanticscholar +1 more source
Sleep disorders in cerebellar ataxias
Arquivos de Neuro-Psiquiatria, 2011 Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias ...
José L. Pedroso +6 more
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The Mechanisms of Nuclear Proteotoxicity in Polyglutamine Spinocerebellar Ataxias
Frontiers in Neuroscience, 2020 Polyglutamine (polyQ) spinocerebellar ataxias (SCAs) are the most prevalent subset of SCAs and share the aberrant expansion of Q-encoding CAG repeats within the coding sequences of disease-responsible genes as their common genetic cause. These polyQ SCAs
Davin Lee +3 more
semanticscholar +1 more source
MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2
Case Reports in Neurology, 2017 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12.
Fumihito Yoshii +3 more
doaj +1 more source