title: Spinocerebellar ataxia with sensory neuropathy (SCA25).
abstract: Spinocerebellar ataxia 25 (SCA25) is a rare form of autosomal dominant cerebellar ataxia associated with a severe sensory neuropathy. Clinical variability ranges from incomplete penetrance at age 61 to a Friedreich ataxia-like syndrome. The responsible locus was mapped to chromosome 2p in a large region of 14 Mbases in a single French kindred.
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: Emmanuel
authors.initials: E
authors.lastname: Broussolle
authors.forename: Nathalie
authors.initials: N
authors.lastname: Streichenberger
authors.forename: Nicolas
authors.initials: N
authors.lastname: Kopp
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Alexandra
authors.initials: A
authors.lastname: Durr
mesh_terms: D002531:Cerebellum / Q000473:pathology; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*