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Article

Somatic gene mutations in the motor cortex of patients with sporadic amyotrophic lateral sclerosis.

Brain : a journal of neurology - 5 Mar 2026

González-Velasco Óscar, Parlato Rosanna, Yilmaz Rüstem, Decker Lorena, Menge Sonja, Freischmidt Axel, Yang Xiaoxu, Tulasi Nikshitha, Brenner David, Andersen Peter M, Forsberg Karin M E, Schlachetzki Johannes C M, Brors Benedikt, Voith von Voithenberg Lena, Weishaupt Jochen H

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is characterized by the progressive degeneration of cortical and spinal motor neurons. Mendelian germline mutations often cause familial ALS (fALS) but only approximately 10% of sporadic ALS cases (sALS). We leveraged DNA and single-cell RNA sequencing data from autopsy tissue to explore the presence of somatic mosaic variants in sALS cases. Deep targeted panel sequencing of...

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PMID: 41378777
DOI: 10.1093/brain/awaf460
PMCID: PMC13017032

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FUS

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