Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy.

Article

Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy.

JAMA - 4 Nov 1992

Bertoni J M, Brown P, Goldfarb L G, Rubenstein R, Gajdusek D C

Abstract excerpt

OBJECTIVE: To identify a possible gene defect in a large kindred with atypical Creutzfeldt-Jakob disease (CJD). SUBJECTS: Over 360 kindred members, with and without progressive dementia. METHODS: Family, hospital, and clinic records were reviewed. The DNA was extracted from paraffin-embedded brai...

Topics

Adult
Aged
Amyloid
Base Sequence
Chromosomes, Human, Pair 20
Codon
Creutzfeldt-Jakob Syndrome
DNA, Single-Stranded
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Supranuclear Palsy, Progressive

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