Parkinsonism, FXTAS, and FMR1 premutations

Mathias Toft, Jan Aasly, Gina Bisceglio, Charles H. Adler, Ryan J. Uitti, Anna Krygowska-Wajs, Timothy Lynch, Zbigniew K. Wszolek, Matthew J. Farrer

Research output: Contribution to journalArticlepeer-review

46 Scopus citations

Abstract

The presence of late-onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X-associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55-200 CGG repeats). Five patients (1.2%) carry intermediate-size alleles (41-54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study.

Original languageEnglish (US)
Pages (from-to)230-233
Number of pages4
JournalMovement Disorders
Volume20
Issue number2
DOIs
StatePublished - Feb 2005

Keywords

  • Ataxia
  • Fragile X
  • Genetics
  • Parkinson's disease
  • Trinucleotide repeat

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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