Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis

Sabina Capellari, Simone Baiardi, Rita Rinaldi, Anna Bartoletti-Stella, Claudio Graziano, Silvia Piras, Giovanna Calandra-Buonaura, Roberto D'Angelo, Camilla Terziotti, Raffaele Lodi, Vincenzo Donadio, Loris Pironi, Pietro Cortelli, Piero Parchi

Research output: Contribution to journalArticlepeer-review


Truncating mutations in PRNP have been associated with heterogeneous phenotypes ranging from chronic diarrhea and neuropathy to dementia, either rapidly or slowly progressive. We identified novel PRNP stop-codon mutations (p.Y163X, p.Y169X) in two Italian kindreds. Disease typically presented in the third or fourth decade with progressive autonomic failure and diarrhea. Moreover, one proband (p.Y163X) developed late cognitive decline, whereas some of his relatives presented with isolated cognitive and psychiatric symptoms. Our results strengthen the link between PRNP truncating mutations and systemic abnormal PrP deposition and support a wider application of PRNP screening to include unsolved cases of familial autonomic neuropathy.

Original languageEnglish
Pages (from-to)777-783
Number of pages7
JournalAnnals of Clinical and Translational Neurology
Issue number6
Publication statusPublished - Jun 1 2018

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology


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