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Article

Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia.

Neurobiology of aging - 1 Apr 2011

Anfossi Maria, Vuono Romina, Maletta Raffaele, Virdee Kanwar, Mirabelli Maria, Colao Rosanna, Puccio Gianfranco, Bernardi Livia, Frangipane Francesca, Gallo Maura, Geracitano Silvana, Tomaino Carmine, Curcio Sabrina Anna Maria, Zannino Giuseppa, Lamenza Francesco, Duyckaerts Charles, Spillantini Maria Grazia, Losso Maria Adele, Bruni Amalia C

Abstract excerpt

Intronic MAPT mutations altering exon 10 splicing lead mainly to an increase of 4Rtau. The objective of this study is to report clinical, genetic, and neuropathological data of an apparently sporadic early onset frontotemporal dementia (FTD) case associated with 2 novel intronic MAPT gene mutations IVS10+4A > C and IVS9-15T > C that increase 3Rtau. Methods and subjects used are clinical, neuroradiological, and...

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Source

Identifiers

PMID: 21295377
DOI: 10.1016/j.neurobiolaging.2010.12.013

Genes

MAPT

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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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