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The G41D mutation in SOD1-related amyotrophic lateral sclerosis exhibits phenotypic heterogeneity among individuals: A case report and literature review.

Medicine - 11 Feb 2022

Zhao Xinyi, Feng Xinhong, Li Xiuli, Mou Jingyu, Liu Hongjing, Chen Jing, Wu Jian

Abstract excerpt

RATIONALE: Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease. However, the misdiagnosis of ALS always occurs because of atypical clinical manifestations. Since mutations in Cu/Zn superoxide dismutase 1 (SOD1) have been implicated as causative and account for 20% of fALS cases, early genetic sequencing of suspected individuals in ALS pedigrees could be helpful. PATIENT...

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PMID: 35147103
DOI: 10.1097/MD.0000000000028771
PMCID: PMC8830837

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