The new FTD mutation on chromosome 9

The second most common form of dementia in younger people is the focus of a thematic series from Alzheimer’s Research & Therapy.

Frontotemporal dementia (FTD) is a rare form of dementia that affects certain areas of the brain. The pathogenic genetic mutation responsible was only identified in 2011 and led to an avalanche of research in this area. Series Editor, Professor Bruce Miller, explains: “the C9ORF72 mutation is the most common mutation associated with both FTD and amyotrophic lateral sclerosis (ALS) in the Western hemisphere and Europe (less is known about C9ORF72 in Asia and Africa). It is a gene with strong penetrance, and the vast majority of subjects with C9ORF72 die from a neurodegenerative condition.”

In a special Editorial for Alzheimer’s Research & Therapy, Professor Miller highlights the future challenges for FTD or ALS linked to chromosome 9 (c9FTD/ALS): “Finding therapies will be difficult and require novel therapeutic approaches that involve suppression of the expression of the C9ORF72 repeat. Accurate animal models and well-characterized patient cohorts will be essential to understanding the underlying mechanisms of the disease pathway and the discovery of potential therapeutic targets.” Read the full article in Alzheimer’s Research & Therapy.

In the thematic series, exciting developments in the field are collated in a series of review articles, commentaries and open access research papers looking at the clinical, neuropsychiatric and neuroimaging features of the patients who carry this important new mutation.

Bradley Boeve and Neill Graff-Radford review the major new findings in c9FTD/ALS, and Jamie Fong and colleagues discuss the genetic counseling considerations for individuals and their families considering genetic testing for the pathogenic C9ORF72 expansion. Bryan Traynor and Jennifer Schymick review the progress in genetics between ALS and FTD and how these new insights have broadened and unified current concepts in neurodegeneration.

Understanding the risk of C9ORF72 for both FTD and ALS is important for finding a successful treatment for these disorders.

View the full series at:

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