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Article

Phenotypic variability in fatal familial insomnia (D178N-129M) genotype.

Neurology - 1 Nov 1998

Zerr I, Giese A, Windl O, Kropp S, Schulz-Schaeffer W, Riedemann C, Skworc K, Bodemer M, Kretzschmar H A, Poser S

Abstract excerpt

OBJECTIVE: To report the clinical and pathologic features of patients with the D178N-129M mutation living in Germany. METHODS: Patients with clinically suspected Creutzfeldt-Jakob disease (CJD) were seen in an ongoing, prospective epidemiologic study from June 1993 to August 1997 throughout Germany. Suspect patients were referred to the CJD unit by the participating hospitals or physicians. Patients were seen by...

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Identifiers

PMID: 9818868
DOI: 10.1212/wnl.51.5.1398

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.

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