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Article

Novel PRNP sequence variant associated with familial encephalopathy.

American journal of medical genetics - 15 Dec 1999

Cervenáková L, Buetefisch C, Lee H S, Taller I, Stone G, Gibbs C J, Brown P, Hallett M, Goldfarb L G

Abstract excerpt

Human transmissible spongiform encephalopathies (TSEs) are a group of chronic progressive neurodegenerative disorders that may be hereditary, infectious, or sporadic. Hereditary TSEs are associated with mutations in the PRNP gene on chromosome 20p12-pter. We report on a family in which seven patients developed limb and truncal ataxia, dysarthria, myoclonic jerks, and cognitive decline. The age of onset in the...

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Identifiers

PMID: 10581485
DOI: 10.1002/(sici)1096-8628(19991215)88:6<653::aid-ajmg14>3.0.co;2-e

Genes

PRNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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