Abstract
Investigators at Universite de Lille Nord de France, and other centers in France, report the identification of a novel causative gene for spinocerebellar ataxia 21, an autosomal dominant disorder, initially mapped to chromosome 7 and designated as SCA21.
Highlights
Investigators at Universite de Lille Nord de France, and other centers in France, report the identification of a novel causative gene for spinocerebellar ataxia 21, an autosomal dominant disorder, initially mapped to chromosome 7 and designated as SCA21
The ataxia was first described in a large French family with slowly progressive cerebellar ataxia, mental retardation, and severe cognitive impairment in two young children
37 different genetic loci have been associated with SCA subtypes, and 22 causative genes have been identified
Summary
Investigators at Universite de Lille Nord de France, and other centers in France, report the identification of a novel causative gene for spinocerebellar ataxia 21, an autosomal dominant disorder, initially mapped to chromosome 7 and designated as SCA21. The gene, TMEM240, has various mutations in eight SCA families. The ataxia was first described in a large French family with slowly progressive cerebellar ataxia, mental retardation, and severe cognitive impairment in two young children.
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