Ontology highlight
ABSTRACT:
SUBMITTER: Edener U
PROVIDER: S-EPMC2987378 | biostudies-literature | 2010 Aug
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20100331 8
Autosomal dominantly inherited spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders primarily affecting the cerebellum. Genetically, 26 different loci have been identified so far, although the corresponding gene has not yet been determined for 10 of them. Recently, mutations in the ATPase family gene 3-like 2 gene were presented to cause SCA type 28. To define the frequency of SCA28 mutations, we performed molecular genetic analyses in 140 unrelated familial ca ...[more]