Spinocerebellar ataxia with mental retardation (SCA13).
Spinocerebellar ataxia 13 is a slowly progressive and relatively pure autosomal dominant cerebellar ataxia with childhood onset and mental deficiency. The responsible gene has been assigned to a 5.2 Mbases interval on chromosome 19q in a single French family.
Stevanin
Giovanni
G
INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France. stevanin@ccr.jussieu.fr
Durr
Alexandra
A
Benammar
Nawal
N
Brice
Alexis
A
D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D004252:DNA Mutational Analysis / Q000379:methods; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008279:Magnetic Resonance Imaging / Q000379:methods; D010375:Pedigree; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000145:classification / Q000150:complications / Q000235:genetics*