CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis

Abstract Recently, repeat expansions in several genes have been shown to cause or be associated with amyotrophic lateral sclerosis (ALS). It has been demonstrated that an intronic hexanucleotide repeat expansion in C9ORF72 is a major cause of both familial (approximately 40%) and sporadic (approxima...

Full description

Saved in:
Bibliographic Details
Published in:Neurobiology of aging 2012-08, Vol.33 (8), p.1852.e1-1852.e3
Main Authors: Groen, Ewout J.N, van Rheenen, Wouter, Koppers, Max, van Doormaal, Perry T.C, Vlam, Lotte, Diekstra, Frank P, Dooijes, Dennis, Pasterkamp, R. Jeroen, van den Berg, Leonard H, Veldink, Jan H
Format: Article
Language:English
Subjects:
Aged
Aged, 80 and over
Aging
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - epidemiology
Amyotrophic Lateral Sclerosis - genetics
Exons
Female
Fragile X mental retardation 1 (FMR1)
fragile X mental retardation protein
Fragile X Mental Retardation Protein - genetics
Fragile X syndrome
Frontotemporal dementia
Genetic Association Studies
Genetic Markers - genetics
Genetic Predisposition to Disease - epidemiology
Genetic Predisposition to Disease - genetics
Genetic Variation - genetics
Humans
Internal Medicine
Male
Mental retardation
Middle Aged
Nervous system
Netherlands - epidemiology
Neurology
Polymorphism, Single Nucleotide - genetics
Prevalence
Repeat-expansion disease
Repetitive Sequences, Nucleic Acid - genetics
Risk Factors
RNA
Spinocerebellar ataxia
Toxicity
tremor
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract Recently, repeat expansions in several genes have been shown to cause or be associated with amyotrophic lateral sclerosis (ALS). It has been demonstrated that an intronic hexanucleotide repeat expansion in C9ORF72 is a major cause of both familial (approximately 40%) and sporadic (approximately 5%) ALS, as well as frontotemporal dementia (FTD). In addition, a CAG-repeat expansion in exon 1 of ATXN2 , otherwise known to cause spinocerebellar ataxia type 2, has been identified as a major risk factor for sporadic ALS. Intermediate repeat expansions in the fragile X mental retardation 1 ( FMR1 ) gene (55–200 repeats) are known to cause fragile X-associated premature ovarian insufficiency [(FX)POI; female carriers] or fragile X-associated tremor/ataxia syndrome (FXTAS; male carriers) by CGG-mediated RNA toxicity. The present investigation involves screening FMR1 repeat length in 742 sporadic ALS patients and 792 matched controls. Our conclusion is that FMR1 repeat expansions are not associated with ALS.
ISSN:0197-4580
1558-1497
DOI:10.1016/j.neurobiolaging.2012.03.007