Article
The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2026
Allen Matti D, Diab Vanessa, Lezaic Nastasija, Binet Maya, Gentil Benoit J, Blanchard Oliver, Genge Angela, Massie Rami
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease marked by progressive degeneration of upper and lower motor neurons. Most forms of ALS associated with a suspected causal variant are inherited in an autosomal dominant manner. However, there is an important subset of autosomal recessive (AR) variants, often associated with early-onset or atypical clinical features. Advances in genetic...
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