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Article

Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Feb 2010

Gallo Maura, Tomaino Carmine, Puccio Gianfranco, Frangipane Francesca, Curcio Sabrina A M, Bernardi Livia, Geracitano Silvana, Anfossi Maria, Mirabelli Maria, Colao Rosanna, Vasso Franca, Smirne Nicoletta, Maletta Raffaele G, Bruni Amalia Cecilia

Abstract excerpt

A clinical and molecular overlap between Alzheimer's disease (AD) and frontotemporal dementia (FTD) has been reported. Presenilins have been associated with FTD or with FTD-like phenotype, while mutations in the MAPT gene have been linked to a clinical phenotype of AD. We performed a clinical and...

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Identifiers

PMID: 19768372
DOI: 10.1007/s10072-009-0132-9

Genes

MAPT
PSEN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19768372-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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