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Article

Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review.

BMC neurology - 18 Sept 2017

Lin Hui-Chi, Lin Chin-Hsien, Chen Pei-Lung, Cheng Shih-Jung, Chen Pei-Hao

Abstract excerpt

BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported...

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Source

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Identifiers

PMID: 28923025
DOI: 10.1186/s12883-017-0966-3
PMCID: PMC5604294

Genes

MAPT
FUS
GRN
TARDBP
VCP

Variants

Provenance

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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