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Article

Progranulin peripheral levels as a screening tool for the identification of subjects with progranulin mutations in a Portuguese cohort.

Neuro-degenerative diseases - 1 Jan 2014

Almeida Maria Rosário, Baldeiras Inês, Ribeiro Maria Helena, Santiago Beatriz, Machado Cristina, Massano João, Guimarães Joana, Resende Oliveira Catarina, Santana Isabel

Abstract excerpt

BACKGROUND: Progranulin (PGRN) mutations are associated with different clinical phenotypes, including frontotemporal lobar degeneration (FTLD), corticobasal syndrome (CBS) and Alzheimer's disease (AD). As all pathogenic PGRN mutations identified so far cause disease through haploinsufficiency, determination of PGRN levels has been proposed as a reliable method to identify mutation carriers. OBJECTIVE: To evaluate...

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Identifiers

PMID: 24022032
DOI: 10.1159/000352022

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CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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