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: Arepeat-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: Weshow 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.
Original language | English (US) |
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Pages (from-to) | 1159-1163 |
Number of pages | 5 |
Journal | Archives of neurology |
Volume | 69 |
Issue number | 9 |
DOIs | |
State | Published - Sep 2012 |
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology