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Prion Diseases.

Michael D Geschwind

Continuum (Minneapolis, Minn.)

|December 4, 2015

Summary

This summary is machine-generated.

Human prion diseases present in sporadic, genetic, and acquired forms, with varied clinical features. New diagnostic tests show high specificity, but treatments remain elusive, though a protective gene variant offers hope.

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Area of Science:

Neuroscience
Infectious Diseases
Genetics

Background:

Human prion diseases are fatal neurodegenerative disorders caused by misfolded prion proteins.
These diseases manifest in sporadic, genetic, and acquired forms, each with distinct clinical presentations.

Purpose of the Study:

To provide an updated overview of the clinical aspects of human prion diseases.
To highlight the diverse spectrum of presentations and diagnostic advancements.

Main Methods:

Review of current literature on human prion diseases.
Analysis of recent findings in diagnostic testing and genetic research.

Main Results:

New antemortem diagnostic tests for prion diseases demonstrate high specificity.
Genetic prion diseases exhibit slow progression and varied phenotypes, sometimes mimicking other neurodegenerative disorders.
Clinical trials for prion diseases have not yet shown survival benefits.

Conclusions:

Sporadic Creutzfeldt-Jakob disease is the most prevalent form.
Genetic prion diseases are challenging to diagnose due to heterogeneous clinical and neuropathologic features.
Acquired prion diseases are rare and decreasing due to preventative measures.