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Article

A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease.

Journal of neuropathology and experimental neurology - 1 Nov 2015

Tacik Pawel, DeTure Michael, Hinkle Kelly M, Lin Wen-Lang, Sanchez-Contreras Monica, Carlomagno Yari, Pedraza Otto, Rademakers Rosa, Ross Owen A, Wszolek Zbigniew K, Dickson Dennis W

Abstract excerpt

Pick disease (PiD) is a frontotemporal lobar degeneration with distinctive neuronal inclusions (Pick bodies) that are enriched in 3-repeat (3R) tau. Although mostly sporadic, mutations in the tau gene (MAPT) have been reported. We screened 24 cases of neuropathologically confirmed PiD for MAPT mutations and found a novel mutation (c.1008G>C, p.Q336H) in 1 patient. Pathogenicity was confirmed on microtubule...

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Identifiers

PMID: 26426266
DOI: 10.1097/NEN.0000000000000248
PMCID: PMC4607649

Genes

MAPT

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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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