A novel insertional mutation in the prion protein gene: Clinical and bio-molecular findings

C. Mauro, G. Giaccone, G. Piscosquito, A. Lavorgna, M. Nigro, G. Di Fede, A. Leonardi, C. Coppola, S. Formisano, F. Tagliavini, R. Cotrufo, Gianfranco Puoti

Research output: Contribution to journalArticle

Abstract

A young man, presenting with early onset of personality and behavioural changes followed by slowly progressive cognitive impairment associated with marked bi-parietal cerebral atrophy, was found to carry a novel seven extra-repeat insertional mutation in the prion protein gene (PRNP). In vitro, the mutated recombinant prion protein (PrP) showed biochemical properties that were consistent with pathological PrP variants. Our results further underline the heterogeneity of neurological pictures associated with insertional mutations of PRNP, indicating the diagnostic difficulties of sporadic cases with early-onset atypical dementia.

Original languageEnglish
Pages (from-to)1395-1398
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume79
Issue number12
DOIs
Publication statusPublished - Dec 2008

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Surgery

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