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Variably protease-sensitive prionopathy

Silvio Notari1, Brian S Appleby2, Pierluigi Gambetti1

  • 1Department of Pathology, Case Western Reserve University, Cleveland, OH, United States.

Handbook of Clinical Neurology
|June 12, 2018
PubMed

Insights

Variably protease-sensitive prionopathy (VPSPr) is a rare sporadic prion disease. Its unique characteristics include a 2-year duration, specific neuropathology, and genotype-dependent prion protein profiles.

Area of Science:

  • Neurology
  • Prion Disease Research
  • Molecular Biology

Background:

  • Variably protease-sensitive prionopathy (VPSPr) is a rare sporadic human prion disease.
  • First identified in 2008 and renamed in 2010, 37 cases have been reported, representing 0.7-1.7% of sporadic prion diseases.
  • VPSPr lacks gene mutations, classifying it alongside sporadic Creutzfeldt-Jakob disease (sCJD) and sporadic fatal insomnia.

Purpose of the Study:

  • To characterize the clinical, neuropathological, and molecular features of VPSPr.
  • To differentiate VPSPr from other prion diseases.
  • To understand the role of the prion protein (PrP) gene codon 129 polymorphism in VPSPr.

Main Methods:

  • Review of reported VPSPr cases.
  • Analysis of clinical presentations and disease duration.
  • Neuropathological examination including spongiform degeneration and PrP deposition.
  • Electrophoretic analysis of abnormal prion protein (PrP) resistance.
  • Comparison with familial prion diseases with similar PrP profiles.

Main Results:

  • VPSPr affects all three genotypes (MM, MV, VV) at the PrP gene codon 129, with VV genotype in 65% of cases.
  • Clinical features include a median 2-year duration, psychiatric signs, speech/language impairment, or cognitive decline.
  • Neuropathology shows moderate spongiform degeneration, PrP miniplaques, and target-like/plaque-like PrP deposition.
  • Abnormal PrP exhibits a five-to-seven band electrophoretic profile with variable protease resistance influenced by the codon 129 genotype.
  • Animal transmission studies confirmed VPSPr as a prion disease.

Conclusions:

  • VPSPr is a distinct sporadic prion disease with unique clinical and neuropathological features.
  • The codon 129 genotype significantly influences the PrP profile in VPSPr.
  • Further research is needed due to VPSPr's rarity and the elusiveness of its abnormal PrP.
Keywords:
anchorlessatypical dementiacognitive declineinternal fragmentnormal-pressure hydrocephaluspsychiatric abnormalitiessensitivespeech impairmentsporadictransmissible

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