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Chorea is a pleiotropic clinical feature of mutated fused-in-sarcoma in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2020

Flies C M, Veldink J H

Abstract excerpt

Around 10% of all amyotrophic lateral sclerosis (ALS) cases are familial and around 3-5% are fused-in-sarcoma (FUS)-related in Europe. We report a 43-year-old patient with a pathogenic FUS mutation (c.1561C>G p.(Arg521Gly) who presented at our clinic with chorea and subsequently with progressive symptoms of classical ALS. As a result of progressive upper and lower motor neurone deterioration, chorea disappeared...

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PMID: 32116048
DOI: 10.1080/21678421.2020.1733021

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