دورية أكاديمية
أعرض في EDS

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

التفاصيل البيبلوغرافية
العنوان: A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
المؤلفون: Renton AE; Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA., Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ
مؤلفون مشاركون: ITALSGEN Consortium
المصدر: Neuron [Neuron] 2011 Oct 20; Vol. 72 (2), pp. 257-68. Date of Electronic Publication: 2011 Sep 21.
نوع المنشور: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
اللغة: English
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Cambridge, Mass. : Cell Press, c1988-
مواضيع طبية MeSH: Chromosomes, Human, Pair 9* , Microsatellite Repeats*, Amyotrophic Lateral Sclerosis/*genetics , Frontotemporal Dementia/*genetics, Alleles ; Female ; Finland ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Humans ; Male ; Pedigree ; Polymorphism, Single Nucleotide
مستخلص: The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region. Here we show that there is a large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 on the affected haplotype. This repeat expansion segregates perfectly with disease in the Finnish population, underlying 46.0% of familial ALS and 21.1% of sporadic ALS in that population. Taken together with the D90A SOD1 mutation, 87% of familial ALS in Finland is now explained by a simple monogenic cause. The repeat expansion is also present in one-third of familial ALS cases of outbred European descent, making it the most common genetic cause of these fatal neurodegenerative diseases identified to date.
(Copyright © 2011 Elsevier Inc. All rights reserved.)
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معلومات مُعتمدة: ZIA AG000933-04 United States ImNIH Intramural NIH HHS; 089701 United Kingdom WT_ Wellcome Trust; G0701441 United Kingdom MRC_ Medical Research Council; Z01-AG000949-02 United States AG NIA NIH HHS; MC_G1000735 United Kingdom MRC_ Medical Research Council; United Kingdom WT_ Wellcome Trust; G0701075 United Kingdom MRC_ Medical Research Council; MC_PC_09003 United Kingdom MRC_ Medical Research Council; U24 AG021886 United States AG NIA NIH HHS; G0802462 United Kingdom MRC_ Medical Research Council; G0700943 United Kingdom MRC_ Medical Research Council; 089703 United Kingdom WT_ Wellcome Trust; MC_G1000734 United Kingdom MRC_ Medical Research Council; 089698 United Kingdom WT_ Wellcome Trust; Z01 AG000949 United States ImNIH Intramural NIH HHS; MC_G0901330 United Kingdom MRC_ Medical Research Council
فهرسة مساهمة: Investigator: A Calvo; S Cammarosano; C Moglia; A Canosa; S Gallo; M Brunetti; I Ossola; G Mora; K Marinou; L Papetti; A Conte; M Luigetti; V La Bella; R Spataro; T Colletti; S Battistini; F Giannini; C Ricci; C Caponnetto; G Mancardi; P Mandich; F Salvi; I Bartolomei; J Mandrioli; P Sola; M Corbo; C Lunetta; S Penco; MR Monsurrò; G Tedeschi; FL Conforti; P Volanti; G Floris; A Cannas; V Piras; MR Murru; MG Marrosu; M Pugliatti; A Ticca; I Simone; G Logroscino
تواريخ الأحداث: Date Created: 20110928 Date Completed: 20111219 Latest Revision: 20230603
رمز التحديث: 20240829
مُعرف محوري في PubMed: PMC3200438
DOI: 10.1016/j.neuron.2011.09.010
PMID: 21944779
قاعدة البيانات: MEDLINE
الوصف
تدمد:1097-4199
DOI:10.1016/j.neuron.2011.09.010