A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration

Cinzia Coppola, Giacomina Rossi, Anna Maria Barbarulo, Giuseppe Di Fede, Carolina Foglia, Elena Piccoli, Giuseppe Piscosquito, Dario Saracino, Fabrizio Tagliavini, Roberto Cotrufo

Research output: Contribution to journalArticle

Abstract

Cortico-basal syndrome (CBS) is a rare neurodegenerative disease characterised by movement and cognitive disorders. It occurs along the spectrum of frontotemporal lobar degeneration (FTLD), which also includes fronto-temporal dementia (FTD) and progressive supranuclear palsy (PSP). FTLD has recently been shown to be associated with mutations in GRN gene, coding for progranulin, a multifunctional secreted glycoprotein involved in cell cycle, inflammation and tissue repair. We describe the case of a 73-year-old man suffering from CBS with a family history of cognitive disorders belonging to the clinical spectrum of FTLD. Sequencing analysis of GRN in this patient revealed that the C157KfsX97 null mutation has been already described by Le Ber et al. in a French patient affected by an apparently sporadic form of FTD. This report confirms the variability of clinical phenotypes associated with the same mutation and emphasises the importance of genetic analysis in cases with a clear familiarity, as well as in apparently sporadic forms.

Original languageEnglish
Pages (from-to)93-97
Number of pages5
JournalNeurological Sciences
Volume33
Issue number1
DOIs
Publication statusPublished - Feb 2012

Fingerprint

Frontotemporal Lobar Degeneration
Phenotype
Mutation
Dementia
Progressive Supranuclear Palsy
Movement Disorders
Rare Diseases
Neurodegenerative Diseases
Glycoproteins
Cell Cycle
Inflammation
Genes

Keywords

  • Cortico-basal syndrome (CBS)
  • Fronto-temporal lobar degeneration (FTLD)
  • GRN gene
  • Mutation
  • Progranulin

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

Cite this

A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration. / Coppola, Cinzia; Rossi, Giacomina; Barbarulo, Anna Maria; Di Fede, Giuseppe; Foglia, Carolina; Piccoli, Elena; Piscosquito, Giuseppe; Saracino, Dario; Tagliavini, Fabrizio; Cotrufo, Roberto.

In: Neurological Sciences, Vol. 33, No. 1, 02.2012, p. 93-97.

Research output: Contribution to journalArticle

Coppola, Cinzia ; Rossi, Giacomina ; Barbarulo, Anna Maria ; Di Fede, Giuseppe ; Foglia, Carolina ; Piccoli, Elena ; Piscosquito, Giuseppe ; Saracino, Dario ; Tagliavini, Fabrizio ; Cotrufo, Roberto. / A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration. In: Neurological Sciences. 2012 ; Vol. 33, No. 1. pp. 93-97.
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