Amyotrophic lateral sclerosis & frontotemporal degeneration
MAPT p.V363I mutation in a patient with presenile dementia and late amyotrophic lateral sclerosis.
Estrella Gómez-Tortosa, Pablo Agüero-Rabes, Javier Roa-Escobar, María José Sainz, Jesús Viñas, Raquel Téllez, Pedro Martínez-Ulloa, Julián Pérez-Pérez
Published: 202510.1080/21678421.2025.2604238
Abstract
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 b…
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