C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.
Hussein Daoud, Hamid Suhail, Mike Sabbagh, Veronique Belzil, Anna Szuto, Alexandre Dionne-Laporte, Jawad Khoris, William Camu, Francois Salachas, Vincent Meininger, Jean Mathieu, Michael Strong, Patrick A Dion, Guy A Rouleau
{"title":"C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.","authors":"Hussein Daoud, Hamid Suhail, Mike Sabbagh, Veronique Belzil, Anna Szuto, Alexandre Dionne-Laporte, Jawad Khoris, William Camu, Francois Salachas, Vincent Meininger, Jean Mathieu, Michael Strong, Patrick A Dion, Guy A Rouleau","doi":"10.1001/archneurol.2012.377","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To further assess the presence of a large hexanucleotide repeat expansion in the first intron of the C9orf72 gene identified as the genetic cause of chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD) in 4 unrelated families with a conclusive linkage to c9ALS/FTD.</p><p><strong>Design: </strong>A repeat-primed polymerase chain reaction assay.</p><p><strong>Setting: </strong>Academic research.</p><p><strong>Participants: </strong>Affected and unaffected individuals from 4 ALS/FTD families.</p><p><strong>Main outcome measure: </strong>The amplified C9orf72 repeat expansion.</p><p><strong>Results: </strong>We show that the repeat is expanded in and segregated perfectly with the disease in these 4 pedigrees.</p><p><strong>Conclusion: </strong>Our findings further confirm the C9orf72 hexanucleotide repeat expansion as the causative mutation for c9ALS/FTD and strengthen the hypothesis that ALS and FTD belong to the same disease spectrum.</p>","PeriodicalId":8321,"journal":{"name":"Archives of neurology","volume":"69 9","pages":"1159-63"},"PeriodicalIF":0.0000,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archneurol.2012.377","citationCount":"22","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives of neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1001/archneurol.2012.377","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 22
Abstract
Objective: To further assess the presence of a large hexanucleotide repeat expansion in the first intron of the C9orf72 gene identified as the genetic cause of chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD) in 4 unrelated families with a conclusive linkage to c9ALS/FTD.
Design: A repeat-primed polymerase chain reaction assay.
Setting: Academic research.
Participants: Affected and unaffected individuals from 4 ALS/FTD families.
Main outcome measure: The amplified C9orf72 repeat expansion.
Results: We show that the repeat is expanded in and segregated perfectly with the disease in these 4 pedigrees.
Conclusion: Our findings further confirm the C9orf72 hexanucleotide repeat expansion as the causative mutation for c9ALS/FTD and strengthen the hypothesis that ALS and FTD belong to the same disease spectrum.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
