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":"C9orf72六核苷酸重复扩增作为染色体9p21相关肌萎缩性侧索硬化症和额颞叶痴呆的致病突变","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":"{\"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}","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}
C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.
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.
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