Spinocerebellar ataxia with sensory neuropathy (SCA25).
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.
Stevanin
Giovanni
G
INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France. stevanin@ccr.jussieu.fr
Broussolle
Emmanuel
E
Streichenberger
Nathalie
N
Kopp
Nicolas
N
Brice
Alexis
A
Durr
Alexandra
A
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*