Screen for expanded FMR1 alleles in patients with essential tremor

Détails

ID Serval
serval:BIB_3AEE4EF0983D
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Screen for expanded FMR1 alleles in patients with essential tremor
Périodique
Movement Disorders
Auteur⸱e⸱s
Garcia Arocena  D., Louis  E. D., Tassone  F., Gilliam  T. C., Ottman  R., Jacquemont  S., Hagerman  P. J.
ISSN
0885-3185
Statut éditorial
Publié
Date de publication
08/2004
Peer-reviewed
Oui
Volume
19
Numéro
8
Pages
930-3
Notes
Comparative Study
Journal Article
Research Support, U.S. Gov't, P.H.S. --- Old month value: Aug
Résumé
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.
Mots-clé
Aged Aged, 80 and over *Alleles Blotting, Southern/methods Essential Tremor/*genetics Female Fragile X Mental Retardation Protein Genetic Screening/methods 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
Pubmed
Web of science
Création de la notice
28/02/2008 10:42
Dernière modification de la notice
20/08/2019 13:30
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