The Progranulin (GRN) Cys157LysfsX97 Mutation is Associated with Nonfluent Variant of Primary Progressive Aphasia Clinical Phenotype

Article type: Short Communication

Authors: Caso, Francesca^{a; *} | Villa, Chiara^b | Fenoglio, Chiara^b | Santangelo, Roberto^a | Agosta, Federica^c | Coppi, Elisabetta^a | Falautano, Monica^a | Comi, Giancarlo^a | Filippi, Massimo^c | Scarpini, Elio^b | Magnani, Giuseppe^{a; 1} | Galimberti, Daniela^{b; 1}

Affiliations: [a] Department of Neurology, Scientific Institute and University Vita-Salute San Raffaele, Milan, Italy | [b] Department of Neurological Sciences, Dino Ferrari Center, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy | [c] Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, Scientific Institute and University Vita-Salute San Raffaele, Milan, Italy

Correspondence: [*] Correspondence to: Dr. Francesca Caso, Department of Neurology, Scientific Institute and University Vita-Salute San Raffaele, Milan, Italy. Tel.: +39 02 2643 2990; Fax: +39 02 2643 2951; E-mail: caso.francesca@hsr.it.

Note: [1] These Authors contributed equally to this work.

Abstract: The progranulin gene (GRN) g.10325_10331delCTGCTGT (relative to nt1 in NG_007886.1), alias Cys157LysfsX97, has been so far reported only once in a patient with frontotemporal dementia. Here, we describe a 63-year old patient carrying the same mutation, presenting with a 3-year history of language disorder, and diagnosed clinically with nonfluent variant of primary progressive aphasia according to current criteria. This patient's description expands the spectrum of clinical presentations of frontotemporal lobar degeneration caused by the GRN Cys157LysfsX97 mutation.

Keywords: Alzheimer's disease, Dementia, frontotemporal lobar degeneration, GRN mutation, nonfluent variant of primary progressive aphasia, progranulin

DOI: 10.3233/JAD-2011-111544

Journal: Journal of Alzheimer's Disease, vol. 28, no. 4, pp. 759-763, 2012