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Article

Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation.

Gene - 1 Oct 2015

Behnam Mahdiyeh, Ghorbani Fatemeh, Shin Jin-Hong, Kim Dae-Seong, Jang Hojung, Nouri Narges, Sedghi Maryam, Salehi Mansoor, Ansari Behnaz, Basiri Keivan

Abstract excerpt

Frontotemporal dementia is a neurodegenerative disorder among adults. An autosomal-dominantly form of frontotemporal dementia and parkinsonism linked to chromosome 17q21.2 (FTDP-17) was defined in 1996. The MAPT gene is responsible for the major cases of FTDP-17, and tau also has a role in Alzheimer's disease. So far, different FTDP-17 causing mutations have been identified in the MAPT gene. Among different MAPT...

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Identifiers

PMID: 26086902
DOI: 10.1016/j.gene.2015.06.033

Genes

MAPT

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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