» Articles » PMID: 15390127

Parkinsonism, FXTAS, and FMR1 Premutations

Overview
Journal Mov Disord
Date 2004 Sep 25
PMID 15390127
Citations 20
Authors
Affiliations
Soon will be listed here.
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.

Citing Articles

Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.

Loesch D, Chafota F, Bui M, Storey E, Atkinson A, Martin N Mol Genet Genomic Med. 2024; 12(11):e70043.

PMID: 39588919 PMC: 11590032. DOI: 10.1002/mgg3.70043.


Evaluation of the role of CGG repeat allele in Parkinson's disease from the Chinese population.

Chen J, Zhao Y, Zhou X, Xue J, Xiao Q, Pan H Front Aging Neurosci. 2023; 15:1234027.

PMID: 37583466 PMC: 10423993. DOI: 10.3389/fnagi.2023.1234027.


Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X-Associated Tremor/Ataxia Syndrome.

Salcedo-Arellano M, Wolf-Ochoa M, Hong T, Amina S, Tassone F, Lechpammer M Mov Disord Clin Pract. 2020; 7(4):413-418.

PMID: 32373658 PMC: 7197312. DOI: 10.1002/mdc3.12942.


Curvilinear Association Between Language Disfluency and CGG Repeat Size Across the Normal, Intermediate, and Premutation Range.

Klusek J, Porter A, Abbeduto L, Adayev T, Tassone F, Mailick M Front Genet. 2018; 9:344.

PMID: 30197656 PMC: 6118037. DOI: 10.3389/fgene.2018.00344.


Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.

Entezari A, Shekari Khaniani M, Bahrami T, Mansoori Derakhshan S, Darvish H Neurol Sci. 2016; 38(1):123-128.

PMID: 27696273 DOI: 10.1007/s10072-016-2723-6.