Pathologic evidence that the T188R mutation in PRNP is associated with prion disease

Maria Carmela Tartaglia, Julie N. Thai, Tricia See, Amy Kuo, Robert Harbaugh, Benjamin Raudabaugh, Ignazio Cali, Mamta Sattavat, Henry Sanchez, Stephen J. Dearmond, Michael D. Geschwind

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

Human prion diseases can be caused by mutations in the prion protein gene PRNP. Prion disease with mutations at codon 188 has been reported in 6 cases, but only 1 had the T188R mutation and itwasnot pathologically confirmed. We report the clinical, neuropsychologic, imaging, genetic, and neuropathologic features of a patient with familial Creutzfeldt-Jakob disease, associated with a very rare PRNP mutation at T188R. The patient presented with prominent behavioral changes in addition to the more typical cognitive and motorimpairments seen in sporadic Creutzfeldt-Jakob disease. The autopsy confirmed prion disease pathology. This case supports the pathogenicity of the T188 PRNP mutation, demonstrates the variabilityof clinical phenotypes associated with certain mutations, and emphasizes the importance of testing for genetic prion disease in casesof apparently sporadic atypical dementia.

Original languageEnglish (US)
Pages (from-to)1220-1227
Number of pages8
JournalJournal of neuropathology and experimental neurology
Volume69
Issue number12
DOIs
StatePublished - Dec 2010

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Neurology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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