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Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype
Tremor and Other Hyperkinetic Movements, 2018 Background: Spinocerebellar ataxia (SCA) is an uncommon form of progressive cerebellar ataxia with multiple genetic causes and marked variability in phenotypic expression even across patients with identical genetic abnormalities.
Christopher L. Groth, Brian D. Berman
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Spinocerebellar ataxia type 7 [PDF]
Definitions, 2020 The classification of the spinocerebellar ataxias (SCAs) has passed through different stages of sophistication, starting from the clinical and neuropathological descriptions of isolated familial examples (Greenfield, 1954), to Harding’s classification ...
Inserm
openalex +2 more sources
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2
Nature, 2017 There are no disease-modifying treatments for adult human neurodegenerative diseases. Here we test RNA-targeted therapies in two mouse models of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant polyglutamine disease.
Daniel R Scoles +2 more
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Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
Scientific Reports, 2023 Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA- FGF14 ataxia; spinocerebellar ataxia 27B). Molecular confirmation of FGF14 GAA repeat expansions has thus far mostly relied on long-read sequencing, a ...
semanticscholar +1 more source
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia
Movement Disorders, 2023 More than 50 loci are associated with spinocerebellar ataxia (SCA), and the most frequent subtypes share nucleotide repeats expansion, especially CAG expansion.
D. Tan +24 more
semanticscholar +1 more source
European Journal of Neurology, 2023 Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene have recently been shown to cause spinocerebellar ataxia 27B (SCA27B).
Pablo Iruzubieta +24 more
semanticscholar +1 more source
A rare case of spinocerebellar ataxia autosomal recessive 21 presented with liver disease
Advanced Biomedical Research, 2023 Spinocerebellar ataxia autosomal recessive 21 is known as a very rare disease. It is caused by a homozygous mutation in the SCYL1 gene on chromosome 11q13 and presented in early childhood.
Narges Zare +2 more
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Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients
Brain Communications, 2023 Ashton C et al report a retrospective multi-centre cohort of 34 patients from Canada, France, Austria and Australia with spinocerebellar ataxia 27B, describing the common feature of episodic ataxia and other episodic features, as well as the inefficacy ...
Catherine Ashton +13 more
semanticscholar +1 more source
Movement Disorders, 2023 Intronic GAA repeat expansions in the fi broblast growth factor 14 gene ( FGF14 ) have recently been shown to be a common cause of adult-onset degenerative ataxia (spi-nocerebellar ataxia 27B [SCA27B], MIM: 620174), 1,2 but frequencies in strictly ...
H. Hengel +8 more
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Stage-dependent biomarker changes in spinocerebellar ataxia type 3
medRxiv, 2023 Spinocerebellar ataxia type 3/Machado–Joseph disease is the most common autosomal dominant ataxia. In view of the development of targeted therapies, knowledge of early biomarker changes is needed.
J. Faber +38 more
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