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Article

Prion mutation D178N with highly variable disease onset and phenotype.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2009

Synofzik M, Bauer P, Schöls L

Abstract excerpt

Hereditary prion disease is a fatal genetic disorder of autosomal dominant inheritance. Recent phenotype-genotype correlation studies revealed a considerable clinical and pathological overlap for patients with the D178N mutation, suggesting a continuous spectrum between fatal familial insomnia an...

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Source

Identifiers

PMID: 19228673
DOI: 10.1136/jnnp.2008.149922

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19228673-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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