The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype

Francesca Caso, Chiara Villa, Chiara Fenoglio, Roberto Santangelo, Federica Agosta, Elisabetta Coppi, Monica Falautano, Giancarlo Comi, Massimo Filippi, Elio Scarpini, Giuseppe Magnani, Daniela Galimberti

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)759-763
Number of pages5
JournalJournal of Alzheimer's Disease
Volume28
Issue number4
DOIs
Publication statusPublished - 2012

Keywords

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

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Geriatrics and Gerontology
  • Clinical Psychology

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