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Article

MAPT Q336H mutation: Intrafamilial phenotypic heterogeneity in a new Italian family.

European journal of neurology - 1 May 2022

Villa Cristina, Rossi Giacomina, Bizzozero Ilaria, Prioni Sara, Boiocchi Chiara, Agosta Federica, Canu Elisa, Filippi Massimo, Giaccone Giorgio, Caroppo Paola

Abstract excerpt

BACKGROUND AND PURPOSE: Q336H is a rare MAPT mutation, previously found in a single patient with behavioral variant frontotemporal dementia and tau pathology (Pick bodies). Here, we describe the clinical characteristics of two members of a new family carrying the Q336H MAPT mutation. METHODS: Clinical, genetic, and neuroradiological assessment and follow-up of the proband were made. RESULTS: At age 37 years, the...

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PMID: 35020237
DOI: 10.1111/ene.15250

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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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