Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.

doi:10.1186/s40035-024-00416-x

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Article

Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.

Translational neurodegeneration - 29 May 2024

Huang Miaodan, Liu Yong U, Yao Xiaoli, Qin Dajiang, Su Huanxing

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive loss of motor neurons, resulting in global health burden and limited post-diagnosis life expectancy. Although primarily sporadic, familial ALS (fALS) cases suggest a genetic basis. This review focuses on SOD1, the first gene found to be associated with fALS, which has been more recently confirmed by genome...

Topics

Amyotrophic Lateral Sclerosis
Humans
Superoxide Dismutase-1
Mutation

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PMID: 38811997
DOI: 10.1186/s40035-024-00416-x
PMCID: PMC11138100

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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