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Article

Novel prion protein insert mutation associated with prolonged neurodegenerative illness.

Neurology - 27 May 2003

Lewis V, Collins S, Hill A F, Boyd A, McLean C A, Smith M, Masters C L

Abstract excerpt

BACKGROUND: Mutations in the prion protein gene (PRNP) are found in approximately 13 to 15% of persons classified as dying from a transmissible spongiform encephalopathy. Point and octapeptide repeat insert and deletion mutations are described in the open reading frame (ORF) of PRNP. The authors present a clinicopathologic study of a patient with a family history of a lengthy and progressive neurodegenerative...

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Source

Identifiers

PMID: 12771252
DOI: 10.1212/01.wnl.0000065887.14609.0e

Genes

PRNP

Provenance

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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