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Article

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.

Neurogenetics - 1 Aug 2011

Quadri Marialuisa, Cossu Giovanni, Saddi Valeria, Simons Erik J, Murgia Daniela, Melis Maurizio, Ticca Anna, Oostra Ben A, Bonifati Vincenzo

Abstract excerpt

Mutations in the TARDBP gene are a cause of autosomal dominant amyotrophic lateral sclerosis (ALS) and of frontotemporal lobar degeneration (FTLD), but they have not been found so far in patients with Parkinson's disease (PD). A founder TARDBP mutation (p.Ala382Thr) was recently identified as the cause of ~30% of ALS cases in Sardinia, a Mediterranean genetic isolate. We studied 327 consecutive Sardinian patients...

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Identifiers

PMID: 21667065
DOI: 10.1007/s10048-011-0288-3
PMCID: PMC3158341

Genes

TARDBP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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