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
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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.
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