title: Spinocerebellar ataxia type 15.
abstract: Spinocerebellar ataxia type 15 (SCA15), first described in 2001, is a slowly progressive, relatively pure dominantly inherited ataxia. Six pedigrees have been reported to date, in Anglo-Celtic and Japanese populations. Other than notably slow progression, its main distinguishing characteristic is tremor, often affecting the head, which is seen in about half of affecteds and which may be the presenting feature. Neuroradiology shows cerebellar atrophy, particularly affecting the anterior and dorsal vermis. SCA15 is due to various deletions of the inositol 1,4,5-triphosphate receptor 1 gene (ITPR1) on the distal short arm of chromosome 3. The potential of point mutations in ITPR1 to cause SCA15 is not yet confirmed. "SCA16" has now been shown to be due to an ITPR1 mutation, and has now been subsumed into SCA15.
authors.affiliation: Department of Medicine (Neuroscience), Monash University (Alfred Hospital Campus), Melbourne, Australia. elsdon.storey@med.monash.edu.au
authors.forename: Elsdon
authors.initials: E
authors.lastname: Storey
authors.forename: R J McKinlay
authors.initials: RJ
authors.lastname: Gardner
mesh_terms: D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D049674:History, 21st Century; D006801:Humans; D053496:Inositol 1,4,5-Trisphosphate Receptors / Q000235:genetics*; D007564:Japan; D059906:Neuroimaging; D017354:Point Mutation / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000266:history
chemical_list: C506926:ITPR1 protein, human; D053496:Inositol 1,4,5-Trisphosphate Receptors