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 journalArticle

48 Citations (Scopus)

Abstract

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
Volume19
Issue number8
DOIs
StatePublished - Aug 2004

Fingerprint

Essential Tremor
Intellectual Disability
Alleles
Parkinsonian Disorders
Gait Ataxia
Movement Disorders
Tremor
Ataxia
Neurodegenerative Diseases
Population
Genotype
Genes

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Garcia Arocena, D., Louis, E. D., Tassone, F., Gilliam, T. C., Ottman, R., Jacquemont, S., & Hagerman, P. J. (2004). Screen for expanded FMR1 alleles in patients with essential tremor. Movement Disorders, 19(8), 930-933. https://doi.org/10.1002/mds.20043

Screen for expanded FMR1 alleles in patients with essential tremor. / Garcia Arocena, Dolores; Louis, Elan D.; Tassone, Flora; Gilliam, T. Conrad; Ottman, Ruth; Jacquemont, Sébastien; Hagerman, Paul J.

In: Movement Disorders, Vol. 19, No. 8, 08.2004, p. 930-933.

Research output: Contribution to journalArticle

Garcia Arocena, D, Louis, ED, Tassone, F, Gilliam, TC, Ottman, R, Jacquemont, S & Hagerman, PJ 2004, 'Screen for expanded FMR1 alleles in patients with essential tremor', Movement Disorders, vol. 19, no. 8, pp. 930-933. https://doi.org/10.1002/mds.20043
Garcia Arocena D, Louis ED, Tassone F, Gilliam TC, Ottman R, Jacquemont S et al. Screen for expanded FMR1 alleles in patients with essential tremor. Movement Disorders. 2004 Aug;19(8):930-933. https://doi.org/10.1002/mds.20043
Garcia Arocena, Dolores ; Louis, Elan D. ; Tassone, Flora ; Gilliam, T. Conrad ; Ottman, Ruth ; Jacquemont, Sébastien ; Hagerman, Paul J. / Screen for expanded FMR1 alleles in patients with essential tremor. In: Movement Disorders. 2004 ; Vol. 19, No. 8. pp. 930-933.
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