How geneticists uncovered a common root of two neurological diseases

"Though most cases of ALS are sporadic, or apparently occurring without a family history, 5 to 10 percent come from genetic causes that are passed down through families."

"Their research revealed that these two very different disorders are part of the same spectrum of disease, leading doctors and researchers to rethink these conditions and potential treatments."

"After four years of scouring the genomes of affected families for a responsible gene, Traynor and Rademakers identified a mutation of a gene called C9ORF72 that many people with a family history of both diseases share."

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are distinct neurodegenerative diseases with different symptoms. FTD affects personality and behavior, while ALS leads to muscle weakness and speech difficulties. Research by Bryan Traynor and Rosa Rademakers identified a shared genetic mutation, C9ORF72, in families affected by both diseases. This finding suggests that FTD and ALS are part of the same disease spectrum, prompting a reevaluation of their treatment approaches. Traynor and Rademakers received recognition for their work with a Breakthrough Prize in Life Sciences.

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