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The majority have a rapid decline with short survival, but many patients with gPrDs present as slowly progressive ataxic or parkinsonian disorders with progression over a few to several years. A few very rare mutations even present as neuropsychiatric disorders, sometimes with systemic symptoms such as gastrointestinal disorders and neuropathy, progressing over years to decades. gPrDs are caused by mutations in the prion protein gene (<jats:italic>PRNP<\/jats:italic>), and have been historically classified based on their clinicopathological features as genetic Jakob\u2013Creutzfeldt disease (gJCD), Gerstmann\u2013Str\u00e4ussler\u2013Scheinker (GSS), or Fatal Familial Insomnia (FFI). Mutations in <jats:italic>PRNP<\/jats:italic> can be missense, nonsense, and octapeptide repeat insertions or a deletion, and present with diverse clinical features, sensitivities of ancillary testing, and neuropathological findings. We present the UCSF gPrD cohort, including 129 symptomatic patients referred to and\/or seen at UCSF between 2001 and 2016, and compare the clinical features of the gPrDs from 22 mutations identified in our cohort with data from the literature, as well as perform a literature review on most other mutations not represented in our cohort. E200K is the most common mutation worldwide, is associated with gJCD, and was the most common in the UCSF cohort. Among the GSS\u2010associated mutations, P102L is the most commonly reported and was also the most common at UCSF. We also had several octapeptide repeat insertions (OPRI), a rare nonsense mutation (Q160X), and three novel mutations (K194E, E200G, and A224V) in our UCSF cohort. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32505","type":"journal-article","created":{"date-parts":[[2016,12,14]],"date-time":"2016-12-14T13:09:48Z","timestamp":1481720988000},"page":"36-69","source":"Crossref","is-referenced-by-count":92,"title":["Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature"],"prefix":"10.1002","volume":"174","author":[{"given":"Leonel T.","family":"Takada","sequence":"first","affiliation":[{"name":"Department of Neurology Cognitive and Behavioral Neurology Unit University of S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mee\u2010Ohk","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, Memory and 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