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Article

Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy.

The Lancet. Neurology - 1 May 2025

Balendra Rubika, Sreedharan Jemeen, Hallegger Martina, Luisier Raphaëlle, Lashuel Hilal A, Gregory Jenna M, Patani Rickie

Abstract excerpt

Mutations in the TARDBP gene, which encodes the TDP-43 protein, account for only 3-5% of familial cases of amyotrophic lateral sclerosis and less than 1% of cases that are apparently idiopathic. However, the discovery of neuronal inclusions of TDP-43 as the neuropathological hallmark in the majority of cases of amyotrophic lateral sclerosis has transformed our understanding of the pathomechanisms underlying...

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Identifiers

PMID: 40252666
DOI: 10.1016/S1474-4422(25)00109-7
PMCID: PMC7617675

Genes

TARDBP

Provenance

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

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