SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family

Autor:	Russell L. Margolis, Cecilia Zander, Susan E. Holmes, Ishwar C. Verma, Ish Anand, Alexis Brice, Renu Saxena, Hiroto Fujigasaki, Alexandra Durr, Christopher A. Ross, Laure Jamot, Anne-Sophie Lebre, Agnès Camuzat
Rok vydání:	2001
Předmět:	Genetics congenital hereditary and neonatal diseases and abnormalities Locus (genetics) Biology medicine.disease PPP2R2B Degenerative disease Neurology Autosomal dominant cerebellar ataxia medicine Spinocerebellar ataxia Neurology (clinical) Allele Trinucleotide repeat expansion Gene
Zdroj:	Annals of Neurology. 49:117-121
ISSN:	1531-8249 0364-5134
DOI:	10.1002/1531-8249(200101)49:1<117::aid-ana19>3.0.co;2-g
Popis:	Spinocerebellar ataxia 12 (SCA12) is an autosomal dominant cerebellar ataxia (ADCA) described in a single family with a CAG repeat expansion in the PPP2R2B gene. We screened 247 index cases, including 145 families with ADCA, for this expansion. An expanded repeat ranging from 55 to 61 triplets was detected in 6 affected and 3 unaffected individuals at risk in a single family from India. The association of the PPP2R2B CAG repeat expansion with disease in this new family provides additional evidence that the mutation is causative.
Databáze:	OpenAIRE
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