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

doi:10.1212/wnl.51.5.1398

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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 Germa...

Topics

Adult
Aged
Amino Acid Substitution
Creutzfeldt-Jakob Syndrome
Female
Genetic Variation
Genotype
Germany
Humans
Male
Middle Aged
Phenotype
Prion Diseases
Prions
Restriction Mapping

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