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Article

Dementia associated with a 216 base pair insertion in the prion protein gene. Clinical and neuropathological features.

Brain : a journal of neurology - 1 Jun 1993

Duchen L W, Poulter M, Harding A E

Abstract excerpt

We report the clinical and neuropathological findings in a patient with a 216 base pair insertion in the prion protein (PrP) gene. She died aged 57 years after a 2.5-year illness characterized by falls, axial rigidity, myoclonic jerks and progressive dementia. There was no history of affected rel...

Topics

Basal Ganglia
Base Sequence
Brain
Cerebellum
Dementia
Female
Humans
Middle Aged
Mutation
Prion Diseases
Prions

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8513392
DOI: 10.1093/brain/116.3.555

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8513392-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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