<i>SOD1</i> mutations in Taiwanese ALS patients: Clinical characteristics, frequency, and a p.T138R founder effect

<i>SOD1</i> mutations account for approximately 4% of ALS cases in Taiwan, are associated with earlier onset and predominantly spinal-onset ALS, and include a p.T138R founder variant. These findings highlight the importance of genetic screening in ALS, particularly in guiding eligibility for emerging targeted therapies.

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Publication Details

Journal
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Published
2025-12-22
DOI
https://doi.org/10.1080/21678421.2025.2604236
Primary Topic
Amyotrophic Lateral Sclerosis Research
Type
article
Field-Weighted Citation Impact
0.00
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SOD1 mutations in Taiwanese ALS patients: Clinical characteristics, frequency, and a p.T138R founder effect

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SOD1 mutations in Taiwanese ALS patients: Clinical characteristics, frequency, and a p.T138R founder effect

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article en

Abstract

<i>SOD1</i> mutations account for approximately 4% of ALS cases in Taiwan, are associated with earlier onset and predominantly spinal-onset ALS, and include a p.T138R founder variant. These findings highlight the importance of genetic screening in ALS, particularly in guiding eligibility for emerging targeted therapies.

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
National Yang Ming Chiao Tung University (TW), National Chung Hsing University (TW), Taipei Veterans General Hospital (TW)
Openalex Percentile: Top 32%
Amyotrophic Lateral Sclerosis Research
DOISourceOpenAlex
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