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Updated: May 18, 2026

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
Published on: May 16, 2017
C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral
Hussein Daoud1, Hamid Suhail, Mike Sabbagh
1CHUM Research Center and Department of Medicine, Centre of Excellence in Neuroscience of Université de Montréal, Canada.
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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