Spinocerebellar ataxia type 15
- Author(s)
- Gardner, RJM; Knight, MA; Hara, K; Tsuji, S; Forrest, SM; Storey, E;
- Details
- Publication Year 2005,Volume 4,Issue #1,Page 47-50
- Journal Title
- CEREBELLUM
- Publication Type
- Journal Article
- Abstract
- Spinocerebellar ataxia type 15 (SCA15) was first reported in 2001 on the basis of a single large Anglo-Celtic family from Australia, the locus mapping to chromosomal region 3p24.2-3pter. The characteristic clinical feature was of very slow progression, with two affected individuals remaining ambulant without aids after over 50 years of symptoms. Head and/or upper limb action tremor, and gaze-evoked horizontal nystagmus were seen in several persons. MRI brain scans showed predominant vermal atrophy, sparing the brainstem. In 2004, a Japanese pedigree was reported, which displayed very similar clinical features to the original SCA15 family, and which mapped to an overlapping candidate region. These two families might plausibly reflect a locus homogeneity, but for the present this remains an open question.
- Publisher
- TAYLOR & FRANCIS LTD
- Keywords
- SCA14
- Publisher's Version
- https://doi.org/10.1080/14734220410019029
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2005-01-01 12:00:00