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Article

Unusual electrophysiological findings in a Chinese ALS 4 family with SETX-L389S mutation: a three-year follow-up.

Journal of neurology - 1 Mar 2021

Lei Lin, Chen Hai, Lu Yan, Zhu Wenjia, Ouyang Yasheng, Duo Jianying, Chen Zhiguo, Da Yuwei

Abstract excerpt

Amyotrophic lateral sclerosis type 4 (ALS4) is a familial form of ALS caused by mutations in the SETX gene. To date, there are seven unrelated ALS4 families with four missense mutations (L389S, T31I, R2136H, and M386T) in SETX. ALS4 is characterized by early onset, distal muscle weakness and atrophy, pyramidal signs, and the absence of sensory deficits. Motor conduction studies often present normality or reduced...

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PMID: 32997296
DOI: 10.1007/s00415-020-10246-2

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