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Article

Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.

European journal of human genetics : EJHG - 1 Nov 2013

Chiang Huei-Hsin, Forsell Charlotte, Lilius Lena, Öijerstedt Linn, Thordardottir Steinunn, Shanmugarajan Krishnan, Westerlund Marie, Nennesmo Inger, Thonberg Håkan, Graff Caroline

Abstract excerpt

Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disease with an age at onset generally below 65 years. Mutations in progranulin (GRN) have been reported to be able to cause FTLD through haploinsufficiency. We have sequenced GRN in 121 patients with FTLD and detected six different mutations in eight patients: p.Gly35Glufs*19, p.Asn118Phefs*4, p.Val200Glyfs*18, p.Tyr294*, p.Cys404* and...

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Identifiers

PMID: 23463024
DOI: 10.1038/ejhg.2013.37
PMCID: PMC3798842

Genes

GRN

Variants

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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