Aprataxin (APTX) gene mutations resembling multiple system atrophy

Yasuhiko Baba, Ryan J. Uitti, Kevin B. Boylan, Yoshinari Uehara, Tatsuo Yamada, Matthew J. Farrer, Elizabeth Couchon, Sat Dev Batish, Zbigniew K. Wszolek

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1. Recent studies showed clinical heterogeneity in patients with EAOH. We describe 2 patients whose clinical features resembled those of multiple system atrophy of the cerebellar subtype (MSA-C) but without ocular motor apraxia and hypoalbuminemia. Each had a different nucleotide transition in the APTX gene (725G→A and 457A→G). These variants on the APTX gene exhibit phenotypic variability.

Original languageEnglish (US)
Pages (from-to)139-142
Number of pages4
JournalParkinsonism and Related Disorders
Volume13
Issue number3
DOIs
StatePublished - Apr 1 2007

Keywords

  • Aprataxin
  • Ataxia
  • Magnetic resonance imaging
  • Multiple system atrophy
  • Parkinsonism

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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