Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised α-fetoprotein, a recessive disorder

Research output: Contribution to journalArticle

Authors

  • L Izatt
  • AH Nemeth
  • A Meesaq
  • KR Mills
  • C Shaw

Colleges, School and Institutes

Abstract

We describe three patients from two families with progressive spinocerebellar ataxia, peripheral neuropathy, raised alpha-fetoprotein (AFP) and hypercholesterolaemia. Two siblings had identical clinical features, with late childhood onset of symptoms and slow progression, requiring crutches to walk at ages 37 and 38 years. Another patient developed ataxia aged 13 years and became wheel-chair bound by 20 years of age. Although they all had raised serum AFP levels, their clinical, immunological, biochemical, cytogenetic and molecular genetic studies failed to support a diagnosis of Ataxia Telangiectasia. Extensive investigation including imaging, biochemical and genetic studies excluded other known ataxias. Their clinical features most closely resemble the phenotype of a single consanguineous Japanese family with four individuals affected by spinocerebellar ataxia, peripheral neuropathy, raised AFP and hypercholesterolaemia. Homozygosity mapping has identified a locus in this Japanese family at 9q34. Haplotype analysis of our cases demonstrated possible linkage to 9q34, suggesting these may be the first Caucasian families described with this disorder.

Details

Original languageEnglish
Pages (from-to)805-812
Number of pages8
JournalJournal of Neurology
Volume251
Publication statusPublished - 1 Jan 2004

Keywords

  • spinocerebellar ataxia, ataxia telangiectasia variant, autosomal recessive, raised AFP, peripheral neuropathy