Fatal familial insomnia

Clinical and pathologic heterogeneity in genetic half brothers

Mahlon Johnson, Cindy L. Vnencak-Jones, Michael J. Me Lean

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

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 exhibited strikingly different clinical and pathologic changes. Comparison of these cousins shows the phenotypic heterogeneity of FFI and suggests that the phenotypic expression of D178N is influenced by multiple factors.

Original languageEnglish (US)
Pages (from-to)1715-1717
Number of pages3
JournalNeurology
Volume51
Issue number6
DOIs
StatePublished - Jan 1 1998
Externally publishedYes

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Fatal Familial Insomnia
Genetic Heterogeneity
Codon
Siblings
Alleles
Genotype
Prions
Valine
Methionine

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

Cite this

Fatal familial insomnia : Clinical and pathologic heterogeneity in genetic half brothers. / Johnson, Mahlon; Vnencak-Jones, Cindy L.; Me Lean, Michael J.

In: Neurology, Vol. 51, No. 6, 01.01.1998, p. 1715-1717.

Research output: Contribution to journalArticle

Johnson, Mahlon ; Vnencak-Jones, Cindy L. ; Me Lean, Michael J. / Fatal familial insomnia : Clinical and pathologic heterogeneity in genetic half brothers. In: Neurology. 1998 ; Vol. 51, No. 6. pp. 1715-1717.
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