Fatal familial insomnia: clinical and pathologic heterogeneity in genetic half brothers.

doi:10.1212/wnl.51.6.1715

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Article

Fatal familial insomnia: clinical and pathologic heterogeneity in genetic half brothers.

Neurology - 1 Dec 1998

Johnson M D, Vnencak-Jones C L, McLean M J

Abstract excerpt

We describe clinical and pathologic features of a patient with fatal familial insomnia (FFI) whose prion (PrP) genotype is D178N coupled with methionine at codon 129 on his mutant allele and valine at codon 129 on his normal allele. A cousin (genetic half brother) with identical PrP genotypes exh...

Topics

Adult
Atrophy
Family Health
Genetic Heterogeneity
Genotype
Humans
Male
Nerve Degeneration
Nuclear Family
Point Mutation
Prion Diseases
Prions
Thalamus

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