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Article

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Sept 2013

van Blitterswijk Marka, Baker Matthew C, Bieniek Kevin F, Knopman David S, Josephs Keith A, Boeve Bradley, Caselli Richard, Wszolek Zbigniew K, Petersen Ronald, Graff-Radford Neill R, Boylan Kevin B, Dickson Dennis W, Rademakers Rosa

Abstract excerpt

Mutations in profilin-1 (PFN1) have recently been identified in patients with amyotrophic lateral sclerosis (ALS). Because of the considerable overlap between ALS and the common subtype of frontotemporal dementia, which is characterized by transactive response DNA-binding protein 43 pathology (FT...

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Source

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Identifiers

PMID: 23634771
DOI: 10.3109/21678421.2013.787630
PMCID: PMC3923463

Genes

PFN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23634771-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia.PMID 23634771Read ↗

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.Semantic proximity Read ↗

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.Semantic proximity Read ↗

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France.Semantic proximity Read ↗

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.Semantic proximity Read ↗

PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis.Semantic proximity Read ↗

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.Semantic proximity Read ↗

Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin.Semantic proximity Read ↗

In silico analysis of PFN1 related to amyotrophic lateral sclerosisSemantic proximity Read ↗

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

Comparison between PFN1 and SOD1 mutations in amyotrophic lateral sclerosis.Semantic proximity Read ↗

PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis.Semantic proximity Read ↗

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