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Deciphering ALS-linked genetic variants in indian patients using targeted and exome sequencing approaches.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2026

Reza Shahrumi, Handique Jupita, Sharma Pooja, Mathew Susi, Bari Shreya, Tyagi Nishu, Sharma Chhavi, Panda Samhita, Chowdhury Debashish, Laskar Sanghamitra, Shaji C V, Joshi Deepika, Kp Divya, Cherian Ajith, Desai Soaham, Gourie Devi M, Srivastava Achal K, Faruq Mohammed

Abstract excerpt

Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with marked clinical and genetic heterogeneity. Data from India remain scarce, although unique survival patterns and regional genetic variation have been suggested. Objective: To define the genetic spectrum of ALS in an Indian cohort and assess the contribution of known and novel variants. Methods: We recruited 238 patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41137727
DOI: 10.1080/21678421.2025.2574681

Genes

SOD1
SQSTM1
ALS2
CNTN4
DISC1
MATR3
NEK1
OPTN
SETX
TARDBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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