Display Settings:

Format

Send to:

Choose Destination
Arch Neurol. 2012 Sep;69(9):1159-63. doi: 10.1001/archneurol.2012.377.

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.

Author information

  • 1CHUM Research Center and Department of Medicine, Centre of Excellence in Neuroscience of Université de Montréal, Canada.

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.

PMID:
22964911
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Silverchair Information Systems
    Loading ...
    Write to the Help Desk