Newly Identified Mutation Associated with ALS and FTD

An expanded hexanucleotide repeat (GGGGCC) on chromosome 9p is an important cause of both frontotemporal dementia and amyotrophic lateral sclerosis.

Two independent groups sought to identify the locus in the gene C9ORF72 on chromosome 9p21, which has been linked to autosomal dominant forms of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

DeJesus-Hernandez and colleagues used polymerase chain reaction (PCR) to amplify a hexanucleotide-repeat region in gene C9ORF72 in affected and unaffected individuals from a Vancouver, Canada, family with members who had ALS, FTD, or both; affected members had TDP-43 brain pathology. Sequencing was then performed in 25 additional Vancouver families with FTD–ALS. At the Mayo Clinic, these authors also sequenced DNA samples from patients with pathologically confirmed FTD–TDP-43, clinical FTD or ALS, and normal individuals.

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Reviewing Author

Stephen Salloway, MD, MS