The new FTD mutation on chromosome 9

The second most common form of dementia in younger people is the focus of athematic seriesfromAlzheimer’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: “theC9ORF72mutation is the most common mutation associated with both FTD and amyotrophic lateral sclerosis (ALS) in the Western hemisphere and Europe (less is known aboutC9ORF72in Asia and Africa). It is a gene with strong penetrance, and the vast majority of subjects withC9ORF72die from a neurodegenerative condition.”

In a specialEditorialforAlzheimer’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 theC9ORF72repeat. 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 inAlzheimer’s Research & Therapy.

In thethematic series,exciting developments in the field are collated in a series of review articles, commentaries and open access research papers looking at theclinical,neuropsychiatricandneuroimagingfeatures of the patients who carry this important new mutation.

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

Understanding the risk ofC9ORF72FTD和ALS对找到苏很重要ccessful treatment for these disorders.

View the full series at:https://alzres.com/series/FTDmutation

For more information onAlzheimer’s Research & Therapy, or tosubmit a manuscript, please visit the journalwebsiteor contact theEditorial Office. To access all subscription content; including peer-reviewed reviews, commentaries and viewpoints, register for afree online trialto the journal and sign up forarticle alerts.

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