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MAPT p.V363I mutation in a patient with presenile dementia and late amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2026

Gómez-Tortosa Estrella, Agüero-Rabes Pablo, Roa-Escobar Javier, Sainz María José, Viñas Jesús, Téllez Raquel, Martínez-Ulloa Pedro, Pérez-Pérez Julián

Abstract excerpt

There are limited reports of motor neuron disease associated with MAPT mutations. We present a woman, carrier of the pathogenic MAPT V363I mutation, who developed a presenile dementia and, after 7 years, amyotrophic lateral sclerosis affecting both bulbar and spinal segments. This mutation has been reported in ten previous cases with various cognitive phenotypes and corticobasal syndrome, but not motor neuron...

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PMID: 41454905
DOI: 10.1080/21678421.2025.2604238

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MAPT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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