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SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family
Author(s) -
Fujigasaki Hiroto,
Verma Ishwar C.,
Camuzat Agnès,
Margolis Russell L.,
Zander Cecilia,
Lebre AnneSophie,
Jamot Laure,
Saxena Renu,
Anand Ish,
Holmes Susan E.,
Ross Christopher A.,
Dürr Alexandra,
Brice Alexis
Publication year - 2001
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200101)49:1<117::aid-ana19>3.0.co;2-g
Subject(s) - spinocerebellar ataxia , trinucleotide repeat expansion , locus (genetics) , cerebellar ataxia , ataxia , genetics , biology , medicine , allele , gene , neuroscience
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. Ann Neurol 2001;49:117–121