Genetic Link Found Between Both ALS Types

CHICAGO, May 5 (UPI) — U.S. scientists say they’ve found a genetic link between sporadic and familial forms of amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease.

Researchers from Northwestern University’s Feinberg School of Medicine found a protein called FUS forms characteristic skein-like cytoplasmic inclusion in spinal motor neurons in most cases of the neurodegenerative disease. Mutations in that gene have been previously linked to a small subset of familial ALS cases, so the scientists said their finding links the rare genetic cause to most cases of ALS, clearing the way for therapy research based on a known molecular target.


The researchers examined the post-mortem spinal cords and brains of 100 cases, 78 with ALS and 22 in a control group. They found FUS pathology in the spinal cords of all the ALS cases, except for a few cases with SOD1 mutations. But FUS pathology was not present in control cases without ALS.

“This is a game changer because it establishes a connection in the development of sporadic ALS with a known cause of familial ALS,” said Dr. Teepu Siddique, the study’s senior author. “Our finding opens up a new field of investigation for rational therapy for all of ALS. This is the holy grail of researchers in this field.”

The study was recently published online in the Annals of Neurology.

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