Screen for expanded FMR1 alleles in patients with essential tremor.

Full 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. Copyright 2004 Movement Disorder Society

Author information

Author/s: Garcia Arocena, Dolores (D); Louis, Elan D (ED); Tassone, Flora (F); Gilliam, T Conrad (TC); Ottman, Ruth (R); Jacquemont, Sébastien (S); Hagerman, Paul J (PJ);

Affiliation: Department of Biological Chemistry, University of California, Davis, School of Medicine, Davis, California 95616, USA. dolgarcia(-atsign-)ucdavis.edu

Grants: NS 39422 (Agency:NINDS NIH HHS) ; NS 43532 (Agency:NINDS NIH HHS)

Journal and publication information

Publication Type: Comparative Study; Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord), published in United States. (Language: eng)

Reference: 2004-Aug; vol 19 (issue 8) : pp 930-3

Dates: Created 2004/08/09; Completed 2004/12/20; Revised 2007/11/14;

PMID: 15300658, status: MEDLINE (last retrieved date: 2/18/2009)

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MeSH Headings (categories) shown below.

Genotype
Humans
Male
Middle Aged
Nerve Tissue Proteins - genetics
RNA, Messenger - biosynthesis
RNA-Binding Proteins - genetics
Reverse Transcriptase Polymerase Chain Reaction - methods
Trinucleotide Repeat Expansion - genetics

Note: Bold headings indicate primary MeSH headings or qualifiers.

Associated Chemicals: FMR1 protein, human (0) ; Nerve Tissue Proteins (0) ; RNA, Messenger (0) ; RNA-Binding Proteins (0) ; Fragile X Mental Retardation Protein (139135-51-6)

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