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 journalArticle

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

Fingerprint

Primary Progressive Nonfluent Aphasia
Phenotype
Mutation
Frontotemporal Lobar Degeneration
Language Disorders
Frontotemporal Dementia
Genes

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

Cite this

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title = "The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype",
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.",
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author = "Francesca Caso and Chiara Villa and Chiara Fenoglio and Roberto Santangelo and Federica Agosta and Elisabetta Coppi and Monica Falautano and Giancarlo Comi and Massimo Filippi and Elio Scarpini and Giuseppe Magnani and Daniela Galimberti",
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publisher = "IOS Press",
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T1 - The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype

AU - Caso, Francesca

AU - Villa, Chiara

AU - Fenoglio, Chiara

AU - Santangelo, Roberto

AU - Agosta, Federica

AU - Coppi, Elisabetta

AU - Falautano, Monica

AU - Comi, Giancarlo

AU - Filippi, Massimo

AU - Scarpini, Elio

AU - Magnani, Giuseppe

AU - Galimberti, Daniela

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

KW - Alzheimer's disease

KW - Dementia

KW - frontotemporal lobar degeneration

KW - GRN mutation

KW - nonfluent variant of primary progressive aphasia

KW - progranulin

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