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Article

Phenotypic variability of familial and sporadic Progranulin p.Gln257Profs*27 mutation.

Journal of Alzheimer's disease : JAD - 1 Jan 2013

Pires Carolina, Coelho Miguel, Valadas Anabela, Barroso Cândida, Pimentel José, Martins Madalena, Duyckaerts Charles, de Mendonça Alexandre, Verdelho Ana, Miltenberger-Miltenyi Gabriel

Abstract excerpt

The clinical phenotype of frontotemporal dementia patients carrying progranulin (GRN) mutations is known to be heterogeneous. We present a patient with corticobasal syndrome and a family with progressive aphasia and behavioral features who were found to have the same p.Gln257Profs*27 mutation. These cases depict the variability of GRN mutation carriers regarding clinical presentation and age of onset. In addition...

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PMID: 23813535
DOI: 10.3233/JAD-130146

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GRN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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