Spinocerebellar ataxia type 15

Cerebellum. 2005;4(1):47-50. doi: 10.1080/14734220410019029.

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.

Publication types

  • Review

MeSH terms

  • Cerebellum / pathology
  • Chromosomes, Human, Pair 3*
  • Family Health
  • Genetic Linkage
  • Humans
  • Pedigree
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / pathology
  • Spinocerebellar Ataxias / physiopathology
  • Trinucleotide Repeat Expansion