Aprataxin mutations are a rare cause of early onset ataxia in Germany

J Neurol. 2004 May;251(5):591-4. doi: 10.1007/s00415-004-0374-7.

Abstract

Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal. We screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. Additionally, we describe several new transcript variants of the APTX gene and discuss their relevance for a sufficient mutation screening.

Publication types

  • Comparative Study

MeSH terms

  • Ataxia / genetics*
  • Ataxia / metabolism
  • DNA Mutational Analysis / methods
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Exons
  • Female
  • Genetic Linkage
  • Genetic Variation
  • Germany / epidemiology
  • Haplotypes
  • Humans
  • Male
  • Microsatellite Repeats
  • Mutation*
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • RNA, Messenger / biosynthesis
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Tryptophan / genetics

Substances

  • APTX protein, human
  • DNA-Binding Proteins
  • Nuclear Proteins
  • RNA, Messenger
  • Tryptophan