Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10

Astrid Rasmussen, Tohru Matsuura, Luis Ruano, Petra Yescas, Adriana Ochoa, Tetsuo Ashizawa, Elisa Alonso

Research output: Contribution to journalArticle

105 Scopus citations

Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by expansion of an unstable ATTCT repeat. SCA10 has been described as a pure cerebellar syndrome accompanied by seizures and has been recognized only in families of Mexican origin. We describe clinical and molecular findings of 18 patients in four Mexican families with SCA10. Affected individuals had an average age at onset of 26.7 years (range 14-44 years) and ATTCT repeats ranging from 920 to 4,140 repeats. We could not detect significant anticipation or correlation between repeat size and age at onset, probably due to the small sample size. In addition to pure cerebellar ataxia and seizures, patients often showed soft pyramidal signs, ocular dyskinesia, cognitive impairment, and/or behavioral disturbances. Brain magnetic resonance imaging showed predominant cerebellar atrophy, and nerve conduction studies indicated polyneuropathy in 66% of patients. One family showed hepatic, cardiac, and hematological abnormalities in affected members. These findings suggest that a wide range of tissues may be affected in SCA10, including those outside of the cerebellum and cerebral cortex.

Original languageEnglish (US)
Pages (from-to)234-239
Number of pages6
JournalAnnals of Neurology
Volume50
Issue number2
DOIs
StatePublished - 2001

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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