Clinical and Genetic Spectrum of SOD1 Mutations in a Southeastern Chinese Amyotrophic Lateral Sclerosis Cohort (P5-9.010)

Yuan Ma; Hui Li

doi:10.1212/wnl.0000000000215874

June 9, 2026Neurology

Clinical and Genetic Spectrum of SOD1 Mutations in a Southeastern Chinese Amyotrophic Lateral Sclerosis Cohort (P5-9.010)

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Key Points

The study aims to define the clinical and genetic characteristics of SOD1 mutations in ALS patients from Southeastern China.
Cohort analysis of ALS patients with SOD1 mutations
Assessment of mutation prevalence and distribution
Evaluation of genotype-phenotype correlations
Identified specific SOD1 mutations and their prevalence in the cohort
Established genotype-phenotype correlations for certain variants

Implication

Study delineates SOD1 mutations' clinical features in a Southeastern Chinese ALS cohort, highlighting genetic insights.

Abstract

This study aimed to delineate the clinical and genetic spectrum of SOD1 mutations in a Southeastern Chinese Amyotrophic Lateral Sclerosis (ALS) cohort, focusing on the prevalence, distribution, and genotype-phenotype correlations of specific variants.

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Cite This Study

Ma et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf36efaef96ed7f055e0b https://doi.org/10.1212/wnl.0000000000215874

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Clinical and Genetic Spectrum of SOD1 Mutations in a Southeastern Chinese Amyotrophic Lateral Sclerosis Cohort (P5-9.010)

Key Points

Implication

Abstract

Discussion

Cite This Study

Clinical and Genetic Spectrum of SOD1 Mutations in a Southeastern Chinese Amyotrophic Lateral Sclerosis Cohort (P5-9.010)

Key Points

Implication

Abstract

Discussion

Cite This Study

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