Clinical trajectories and genetic profiles of SOD1-related amyotrophic lateral sclerosis: insights from a single-center cohort in India.

doi:10.1007/s00415-025-13612-0

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Clinical trajectories and genetic profiles of SOD1-related amyotrophic lateral sclerosis: insights from a single-center cohort in India.

Journal of neurology - 9 Jan 2026

Keerthipriya Muddasu Suhasini, Kotambail Ananthapadmanabha, Deekshitha Madhusudhan, Mahima R, Ramyashree M B, Rao Bhoomika M, Biswas Purbasha, Baskar Dipti, Balaji Peneti, Mehta Mugdha, Gray Olivia, Wasik Kaja A, Emde Anne-Katrin, Polavarapu Kiran, Preethish-Kumar Veeramani, Reddy Pradeep, Thomas Priya Treesa, Nashi Saraswati, Arunachal Gautham, Vengalil Seena, Nalini Atchayaram

Abstract excerpt

Mutations in the superoxide dismutase 1 (SOD1) gene are a predominant, genetic cause of amyotrophic lateral sclerosis (ALS). Given the marked variability in SOD1 variant prevalence and clinical manifestations across global populations, this study aimed to characterize the genetic and clinical profile of SOD1-associated ALS (SOD1-ALS) in a large cohort of Indian patients. Whole-exome sequencing (WES) was performed...

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PMID: 41511639
DOI: 10.1007/s00415-025-13612-0

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SOD1

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