A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression

Giacomina Rossi, Elena Piccoli, Luisa Benussi, Francesca Caso, Veronica Redaelli, Giuseppe Magnani, Giuliano Binetti, Roberta Ghidoni, Daniela Perani, Giorgio Giaccone, Fabrizio Tagliavini

Research output: Contribution to journalArticle

Abstract

Frontotemporal lobar degeneration (FTLD) is a neurodegenerative disorder characterized by behavioural disturbances and cognitive decline. Here we describe an Italian family with FTLD showing remarkable phenotypic heterogeneity. Based on low plasma levels of progranulin, we analyzed the progranulin gene (GRN) in two patients with early onset and found the novel frame-shift mutation T278SfsX7. mRNA analysis confirmed the null effect of the mutation. The patients were homozygous for H1 MAPT haplotype, a disease modifier factor that can account for early age at onset. Being predictive for GRN null mutations, plasma progranulin dosage should be included in diagnostic work-up of dementia.

Original languageEnglish
Pages (from-to)7-12
Number of pages6
JournalJournal of Alzheimer's Disease
Volume23
Issue number1
DOIs
Publication statusPublished - 2011

Keywords

  • Early onset
  • frontotemporal lobar degeneration
  • mutation
  • plasma dosage
  • progranulin

ASJC Scopus subject areas

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

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