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Genetic PrP Prion Diseases. | LitMetric

Genetic PrP Prion Diseases.

Cold Spring Harb Perspect Biol

Memory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, California 94158.

Published: May 2018

Genetic prion diseases (gPrDs) caused by mutations in the prion protein gene () have been classified as genetic Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, or fatal familial insomnia. Mutations in can be missense, nonsense, and/or octapeptide repeat insertions or, possibly, deletions. These mutations can produce diverse clinical features. They may also show varying ancillary testing results and neuropathological findings. Although the majority of gPrDs have a rapid progression with a short survival time of a few months, many also present as ataxic or parkinsonian disorders, which have a slower decline over a few to several years. A few very rare mutations manifest as neuropsychiatric disorders, with systemic symptoms that include gastrointestinal disorders and neuropathy; these forms can progress over years to decades. In this review, we classify gPrDs as rapid, slow, or mixed types based on their typical rate of progression and duration, and we review the broad spectrum of phenotypes manifested by these diseases.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932589PMC
http://dx.doi.org/10.1101/cshperspect.a033134DOI Listing

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