Team science unravels the link between ALS and FTD
Amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease) is a fatal neurodegenerative disorder that leads to progressive paralysis and respiratory failure . Frontotemporal dementia (FTD) is the most common form of dementia in the under-65 population . Researchers have long suspected an overlap between the two diseases, but the molecular and genetic basis of this intersection was unknown.
IRP researcher Bryan J. Traynor, M.D., Ph.D., brought historically competitive research groups together to focus their efforts on identifying the underlying genetic cause of ALS and FTD. The new international consortium discovered that an insertion mutation disrupting the C9ORF72 gene is the most common genetic cause of both ALS and FTD identified to date, accounting for 40 percent of all familial cases of ALS and FTD in European and North American populations.
Discovery of this mutation changed scientific understanding of neurodegenerative diseases, influencing the diagnosis and investigation of ALS and FTD and, for the first time, mechanistically linking the two disorders. It also suggested a therapeutic target for gene therapy, with further research ongoing.
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