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Familial amyotrophic lateral sclerosis: a report of two cases

Published on Jun. 25, 2022Total Views: 3778 timesTotal Downloads: 2362 timesDownloadMobile

Author: Zeng LI Jun-Jian ZHANG

Affiliation: Department of Neurology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China

Keywords: Familial amyotrophic lateral sclerosis SOD1 G147D Gly148Asp Genes Mutation

DOI: 10.12173/j.issn.1004-5511.202111059

Reference: Li Z, Zhang JJ. Familial amyotrophic lateral sclerosis: a report of two cases[J]. Yixue Xinzhi Zazhi, 2022, 32(3): 229-232. DOI:10.12173/j.issn.1004-5511.202111059.[Article in Chinese]

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Abstract

Amyotrophic lateral sclerosis (ALS), the most common motor neuron disease in adults, is characterized by progressive loss of upper and lower motor neurons. Mutations in the superoxide dis-mutase gene (SOD1) account for about 20% of familial ALS cases. Here, we report Gly148Asp mutations in the exons of the SOD1 gene in two patients with familial ALS characterized by rapid progression of the disease, primarily affecting inferior motor neurons. Both patients developed severe systemic muscle atrophy and respiratory failure within one year of onset, having a short survival time. 

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