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Spinocerebellar Ataxia 12

Known as: SCA12 
National Institutes of Health

Related topics

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12 relations

Broader (1)

Ataxia, Spinocerebellar
Autosomal dominant inheritanceCerebellar atrophyCerebral atrophyDelusions

Papers overview

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2015
2015
Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12
SCA12 is a progressive autosomal‐dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and… 
Highly Cited
2010
Highly Cited
2010
Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia
SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms… 
Highly Cited
2008
Highly Cited
2008
The Spinocerebellar Ataxia 12 Gene Product and Protein Phosphatase 2A Regulatory Subunit Bβ2 Antagonizes Neuronal Survival by Promoting Mitochondrial Fission*
The neurodegenerative disorder spinocerebellar ataxia 12 (SCA12) is caused by CAG repeat expansion in the non-coding region of… 
2005
2005
Spinocerebellar ataxia type 6 in Mainland China: Molecular and clinical features in four families
Highly Cited
2004
Highly Cited
2004
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
BACKGROUND Autosomal dominant cerebellar ataxias are a clinical and genetically heterogeneous group of progressive… 
2004
2004
Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families
AbstractThe frequency of autosomal-dominant cerebellar ataxia (ADCA) subtypes was examined in 86 unrelated families originating… 
Highly Cited
2002
Highly Cited
2002
Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients.
Expansions of trinucleotide repeats have been discovered in spinocerebellar ataxia (SCA) types 1, 2, 6, 7, 12, and 17, Machado… 
2002
2002
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1–3, 6 and 7 CAG expansions
Abstract. Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders, six of which are caused by… 
Highly Cited
2001
Highly Cited
2001
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family
Spinocerebellar ataxia 12 (SCA12) is an autosomal dominant cerebellar ataxia (ADCA) described in a single family with a CAG… 
Highly Cited
1999
Highly Cited
1999
Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
The genetic aetiologies of at least 20% of autosomal dominant spinocerebellar ataxias (SCAs) have yet to be elucidated. We have… 
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