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

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• 作者：Ewout J.N. Groenp>ap>p> ; p>p>bp> ; Wouter van Rheenenp>ap> ; Max Koppersp>ap>p> ; p>p>bp> ; Perry T.C. van Doormaalp>ap> ; Lotte Vlamp>ap> ; Frank P. Diekstrap>ap> ; Dennis Dooijesp>cp> ; R. Jeroen Pasterkampp>bp> ; Leonard H. van den Bergp>ap>p> ; p>p>1p> ; Jan H. Veldinkp>ap>p> ; p>p>1p>p> ; p>p>j.h.veldink@umcutrecht.nlp>
• 关键词：Amyotrophic lateral sclerosis ; Fragile X mental retardation 1 (FMR1) ; Repeat-expansion disease
• 刊名：Neurobiology of Aging
• 出版年：2012
• 期刊代码：202_01974580
• 类别：med
• 出版时间：August, 2012
• 卷：33
• 期：8
• 页码：1852.e1-1852.e3
• 文件大小：337 K

摘要

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 m>C9ORF72m> 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 m>ATXN2m>, 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 (m>FMR1m>) 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 m>FMR1m> repeat length in 742 sporadic ALS patients and 792 matched controls. Our conclusion is that m>FMR1m> repeat expansions are not associated with ALS.