SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family
2001; Wiley; Volume: 49; Issue: 1 Linguagem: Inglês
10.1002/1531-8249(200101)49
ISSN1531-8249
AutoresHiroto Fujigasaki, Ishwar C. Verma, A. Camuzat, Russell L. Margolis, Cecilia Zander, Anne-Sophie Lebre, Laure Jamot, Renu Saxena, Ish Anand, Susan E. Holmes, Christopher A. Ross, Alexandra D�rr, Alexis Brice,
Tópico(s)Ubiquitin and proteasome pathways
ResumoSpinocerebellar 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
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