Screen for expanded FMR1 alleles in patients with essential tremor

Dolores Garcia Arocena, Elan D. Louis, Flora Tassone, T. Conrad Gilliam, Ruth Ottman, Sébastien Jacquemont, Paul J. Hagerman

Research output: Contribution to journalArticlepeer-review

52 Scopus citations


Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder, was described recently among male carriers of expanded alleles (55 - 200 CGG repeats; premutation range) of the fragile X mental retardation 1 (FMR1) gene. Major features of the syndrome include intention tremor, gait ataxia, and parkinsonism in men over 50 years of age. This disorder is believed to be relatively common, possibly affecting 1 in 3,000 men over the age of 50 years in the general population. This raises the possibility that some patients presenting with essential tremor (ET) may harbor expanded FMR1 alleles. We screened 81 ET patients (40 males, 41 females) for expanded FMR1 alleles to determine whether ET is associated with such alleles. None of the ET cases had the premutation genotype. CGG repeat sizes ranged from 5 to 47 repeats within this study population, suggesting that expanded FMR1 alleles are uncommon among patients with ET. Screening of movement disorder patients with other clinical features of FXTAS (e.g., ataxia and parkinsonism) may be more likely to yield expanded FMR1 alleles.

Original languageEnglish (US)
Pages (from-to)930-933
Number of pages4
JournalMovement Disorders
Issue number8
StatePublished - Aug 2004
Externally publishedYes


  • Ataxia
  • Essential tremor
  • Fragile X
  • Neurodegeneration
  • Parkinson
  • Trinucleotide repeat

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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