Spinocerebellar ataxia type 15

Elsdon Storey, R. J.Mckinlay Gardner

Research output: Contribution to journalArticleResearchpeer-review

16 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)561-565
Number of pages5
JournalHandbook of Clinical Neurology
Volume103
DOIs
Publication statusPublished - 2011

Cite this