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Article

Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy.

Journal of Alzheimer's disease : JAD - 1 Jan 2017

Fong Jamie C, Rojas Julio C, Bang Jee, Legati Andrea, Rankin Katherine P, Forner Sven, Miller Zachary A, Karydas Anna M, Coppola Giovanni, Grouse Carrie K, Ralph Jeffrey, Miller Bruce L, Geschwind Michael D

Abstract excerpt

Patients with pathogenic truncating mutations in the prion gene (PRNP) usually present with prolonged disease courses with severe neurofibrillary tangle and cerebral amyloidosis pathology, but more atypical phenotypes also occur, including those with dysautonomia and peripheral neuropathy. We describe the neurological, cognitive, neuroimaging, and electrophysiological features of a 31-year-old man presenting with...

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Identifiers

PMID: 27716661
DOI: 10.3233/JAD-160300
PMCID: PMC5149415

Genes

PRNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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