Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.

doi:10.1097/WAD.0b013e31828cc357

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Article

Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.

Alzheimer disease and associated disorders - 1 Jan 2000

Lee Suzee E, Tartaglia Maria C, Yener Görsev, Genç Sermin, Seeley William W, Sanchez-Juan Pascual, Moreno Fermin, Mendez Mario F, Klein Eric, Rademakers Rosa, López de Munain Adolfo, Combarros Onofre, Kramer Joel H, Kenet Robert O, Boxer Adam L, Geschwind Michael D, Gorno-Tempini Maria-Luisa, Karydas Anna M, Rabinovici Gil D, Coppola Giovanni, Geschwind Daniel H, Miller Bruce L

Abstract excerpt

Recently, Coppola and colleagues demonstrated that a rare microtubule-associated protein tau (MAPT) sequence variant, c.454G>A (p.A152T) significantly increases the risk of frontotemporal dementia (FTD) spectrum disorders and Alzheimer disease (AD) in a screen of 15,369 subjects. We describe clinical features of 9 patients with neurodegenerative disease (4 women) harboring p.A152T, aged 51 to 79 years at symptom...

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Identifiers

PMID: 23518664
DOI: 10.1097/WAD.0b013e31828cc357
PMCID: PMC3796183

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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