Prion disease

Handbook of Clinical Neurology
Leonel T TakadaMichael D Geschwind

Abstract

Genetic prion diseases (gPrDs) are caused by autosomal-dominant mutations in the prion protein gene (PRNP). Although the first PRNP mutations identified, and most since, are PRNP missense, octapeptide repeat insertions, deletion and nonsense mutations have now also been shown to cause gPrD. Based on clinicopathologic features of familial disease, gPrDs historically have been classified into three forms: familial Jakob-Creutzfeldt disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia. This classification, however, occurred prior to the identification of PRNP, and although these forms are still recognized, classification now is somewhat more complex. Clinical manifestations, and even pathology, are known to be more heterogeneous and varied than the historic three phenotypic classifications. Most gPrDs either present rapidly with progression of dementia, ataxia, myoclonus, and other motor features leading to death in few months or present more slowly, declining over a few years with mild cognitive impairment, ataxia, or parkinsonism and later dementia; a few very rare mutations, however, present over years to decades with neuropsychiatric disorders and systemic symptoms (gastrointestinal disorders and neurop...Continue Reading

Citations

May 21, 2019·Journal of Neuropathology and Experimental Neurology·Aušrinė AreškevičiūtėEva Løbner Lund
Mar 23, 2019·Acta Neuropathologica Communications·Dorina TipleMaurizio Pocchiari
Sep 18, 2020·Pharmaceutics·Miguel Ángel OrtegaSandra García-Gallego
Jan 12, 2021·Movement Disorders Clinical Practice·Malco RossiBart van de Warrenburg
Apr 20, 2021·Rinshō shinkeigaku = Clinical neurology·Mika DouzonoHiroshi Takashima
Jul 29, 2021·Clinical Microbiology Reviews·Sandra PritzkowClaudio Soto

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