Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia

Abstract 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 m...

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Veröffentlicht in:	Neurobiology of aging 2011-04, Vol.32 (4), p.757.e1-757.e11
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	3Rtau isoforms Blotting, Western Brain - metabolism Brain - pathology Female Frontotemporal Dementia - diagnosis Frontotemporal Dementia - genetics Frontotemporal Dementia - metabolism Humans Immunohistochemistry Internal Medicine Introns Magnetic Resonance Imaging MAPT gene Middle Aged Mutation Neurodegeneration Neurology Neuropsychological Tests Novel intronic mutations Pick's disease tau Proteins - genetics tau Proteins - metabolism
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