title: Spinocerebellar ataxia with mental retardation (SCA13).
abstract: 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.
authors.affiliation: INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France. stevanin@ccr.jussieu.fr
authors.forename: Giovanni
authors.initials: G
authors.lastname: Stevanin
authors.forename: Alexandra
authors.initials: A
authors.lastname: Durr
authors.forename: Nawal
authors.initials: N
authors.lastname: Benammar
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
mesh_terms: 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*