Article
Parkinson-ALS with a novel MAPT variant.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Mar 2024
Ferrari Camilla, Ingannato Assunta, Matà Sabrina, Ramat Silvia, Caremani Luca, Bagnoli Silvia, Bessi Valentina, Sorbi Sandro, Nacmias Benedetta
Abstract excerpt
The mutations on microtubule associated protein tau (MAPT) gene manifest clinically with behavioural frontotemporal dementia (FTD), parkinsonism, such as progressive supranuclear palsy and corticobasal degeneration, and rarely with amyotrophic lateral sclerosis (ALS). FTD-parkinsonism and FTD-ALS are clinical overlaps included in the spectrum of MAPT mutation's phenotypes. The mutations on MAPT gene cause the...
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