title: Spinocerebellar ataxia 13 and 25.
abstract: Spinocerebellar ataxia (SCA) types 13 and 25 are two genetic entities among the autosomal dominant cerebellar ataxias, initially mapped in two French families to chromosomes 19q and 2p, respectively. The SCA13 locus was confirmed by the identification of a second kindred of Filipino ancestry. SCA13 patients have cerebellar ataxia of adult onset, or of early onset when associated with mental impairment. SCA25 patients present with cerebellar ataxia with sensory neuropathy and frequent gastrointestinal features. While the gene responsible for SCA25 is still unknown, missense mutations affecting the potassium channel KCNC3 function have been identified.
authors.affiliation: Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-S975, Paris, France. giovanni.stevanin@upmc.fr
authors.forename: Giovanni
authors.initials: G
authors.lastname: Stevanin
authors.forename: Alexandra
authors.initials: A
authors.lastname: Dürr
mesh_terms: D017668:Age of Onset; D001921:Brain / Q000473:pathology; D002874:Chromosome Mapping; D006801:Humans; D051664:Kv1.3 Potassium Channel / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008958:Models, Molecular; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology / Q000151:congenital; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000473:pathology
chemical_list: C496973:KCNA3 protein, human; D051664:Kv1.3 Potassium Channel