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Spinocerebellar Ataxia Type 5

Known as: SCA5, SPINOCEREBELLAR ATAXIA 5, Spinocerebellar Ataxia-5 
National Institutes of Health

Related topics

Related topics

10 relations
Abnormal coordinationAction TremorAutosomal dominant inheritanceCerebellar Ataxia

Broader (1)

Ataxia, Spinocerebellar

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Loss of β-III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in Humans
Mutations in SPTBN2, the gene encoding β-III spectrin, cause spinocerebellar ataxia type 5 in humans (SCA5), a neurodegenerative… 
Highly Cited
2010
Highly Cited
2010
Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila
How spectrin mutations caused Purkinje cell death becomes clearer following studies that examined the effect of expressing mutant… 
Review
2006
Review
2006
Multiple sclerosis and the hygiene hypothesis
In 1966 Leibowitz et al.1 first suggested that the prevalence of MS was correlated with a childhood environment characterized by… 
Review
2004
Review
2004
Spinocerebellar ataxia type 5
The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia type 5… 
Highly Cited
2003
Highly Cited
2003
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.
The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of… 
Highly Cited
1999
Highly Cited
1999
Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies
Abstract Eleven autopsies of patients from the large founder-population with dominantly inherited spinocerebellar ataxia 2 (SCA2… 
Highly Cited
1999
Highly Cited
1999
Clinical and MRI findings in spinocerebellar ataxia type 5
Article abstract Spinocerebellar ataxia type 5 (SCA5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias… 
Highly Cited
1998
Highly Cited
1998
Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.
The spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. To date… 
Highly Cited
1996
Highly Cited
1996
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
Article abstract-The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders varying in both… 
Highly Cited
1995
Highly Cited
1995
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.
We present linkage analysis on a large Swedish five-generation family of 15 affected individuals with autosomal dominant… 
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