1. CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis
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Max Koppers, Frank P. Diekstra, R. Jeroen Pasterkamp, Lotte Vlam, Perry T.C. van Doormaal, Ewout J N Groen, Leonard H. van den Berg, Jan H. Veldink, Dennis Dooijes, and Wouter van Rheenen
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Genetic Markers ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Aging ,Ataxia ,Polymorphism, Single Nucleotide ,Fragile X Mental Retardation Protein ,03 medical and health sciences ,Exon ,0302 clinical medicine ,Risk Factors ,C9orf72 ,Prevalence ,medicine ,Humans ,Genetic Predisposition to Disease ,Amyotrophic lateral sclerosis ,Genetic Association Studies ,Aged ,Netherlands ,Repetitive Sequences, Nucleic Acid ,030304 developmental biology ,Aged, 80 and over ,Genetics ,0303 health sciences ,business.industry ,General Neuroscience ,Amyotrophic Lateral Sclerosis ,Genetic Variation ,Middle Aged ,medicine.disease ,FMR1 ,nervous system diseases ,Spinocerebellar ataxia ,Female ,Neurology (clinical) ,Geriatrics and Gerontology ,medicine.symptom ,Trinucleotide repeat expansion ,business ,030217 neurology & neurosurgery ,Developmental Biology ,Frontotemporal dementia - 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.
- Published
- 2012
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