TY - JOUR
T1 - CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis
AU - Groen, E.J.N.
AU - van Rheenen, W.
AU - Koppers, M.
AU - van Doormaal, P.T.C.
AU - Vlam, L.
AU - Diekstra, F.P.
AU - Dooijes, D.
AU - Pasterkamp, R.J.
AU - van den Berg, L.H.
AU - Veldink, J.H.
PY - 2012
Y1 - 2012
N2 - 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. (C) 2012 Elsevier Inc. All rights reserved.
AB - 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. (C) 2012 Elsevier Inc. All rights reserved.
KW - Amyotrophic lateral sclerosis
KW - Fragile X mental retardation 1 (FMR1)
KW - Repeat-expansion disease
KW - HEXANUCLEOTIDE REPEAT
KW - ALS
KW - C9ORF72
KW - FTD
UR - http://www.scopus.com/inward/record.url?scp=84861891366&partnerID=8YFLogxK
U2 - 10.1016/j.neurobiolaging.2012.03.007
DO - 10.1016/j.neurobiolaging.2012.03.007
M3 - Article
SN - 0197-4580
VL - 33
JO - Neurobiology of Aging
JF - Neurobiology of Aging
IS - 8
M1 - ARTN 1852.e1
ER -