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Prion disease.

Leonel T Takada1, Mee-Ohk Kim2, Stacy Metcalf2

  • 1Cognitive and Behavioral Neurology Unit, Department of Neurology, University of São Paulo, São Paulo, Brazil.

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|February 27, 2018
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Summary
This summary is machine-generated.

Genetic prion diseases (gPrDs) result from mutations in the prion protein gene (PRNP). This review covers the diverse clinical and pathological presentations of these inherited neurodegenerative disorders.

Keywords:
CJDCreutzfeldt–Jakob diseasenonsense mutationoctapeptide repeat insertionprion protein generapidly progressive dementia

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Area of Science:

  • Neurogenetics
  • Prion biology
  • Molecular neurology

Background:

  • Genetic prion diseases (gPrDs) are inherited neurodegenerative disorders.
  • They arise from mutations in the prion protein gene (PRNP).
  • Historically, gPrDs were classified into three main forms, but this is now more complex.

Purpose of the Study:

  • To review the broad spectrum of clinical and pathological features associated with PRNP mutations causing gPrDs.
  • To highlight the heterogeneity in disease presentation and progression.

Main Methods:

  • Review of existing literature on PRNP mutations and associated phenotypes.
  • Analysis of clinicopathological data from various gPrD forms.

Main Results:

  • PRNP mutations encompass missense, insertions, deletions, and nonsense types.
  • gPrDs exhibit a wide range of clinical manifestations, from rapid dementia and ataxia to slower presentations with parkinsonism or cognitive impairment.
  • Rare mutations can lead to long-term neuropsychiatric disorders and systemic symptoms.

Conclusions:

  • The phenotypic spectrum of gPrDs is more heterogeneous than previously recognized.
  • Understanding this spectrum is crucial for accurate diagnosis and management of inherited prion diseases.