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Original Contribution | Sep 2012

C9orf72 Hexanucleotide Repeat Expansions as the Causative Mutation for Chromosome 9p21–Linked Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Hussein Daoud, PhD; Hamid Suhail, PhD; Mike Sabbagh, MD; Veronique Belzil, MSc; Anna Szuto, MSc; Alexandre Dionne-Laporte, MSc; Jawad Khoris, MD; William Camu, MD; Francois Salachas, MD; Vincent Meininger, MD; Jean Mathieu, MD, MSc, FRCPC; Michael Strong, MD, FRCPC; Patrick A. Dion, PhD; Guy A. Rouleau, MD, PhD, FRCPC

Arch Neurol. 2012;69(9):1159-1163. doi:10.1001/archneurol.2012.377.

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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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Figure. Pedigrees of the 4 families segregating the C9orf72 hexanucleotide repeat expansion. Black diamonds indicate individuals with amyotrophic lateral sclerosis (ALS); green diamonds, individuals with frontotemporal dementia (FTD); red diamonds, individuals with both ALS and FTD; gray diamonds, individuals with preliminary signs of dementia; and white diamonds, unaffected or at-risk individuals. W indicates wild-type alleles; M, mutant alleles. Individuals with diagonal lines are deceased. Not all family members are shown to protect privacy.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

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Daoud H, Suhail H, Sabbagh M, et al. C9orf72 Hexanucleotide Repeat Expansions as the Causative Mutation for Chromosome 9p21–Linked Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Arch Neurol. 2012;69(9):1159-1163. doi:10.1001/archneurol.2012.377.

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C9orf72 Hexanucleotide Repeat Expansions as the Causative Mutation for Chromosome 9p21–Linked Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

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