The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred.

doi:10.1212/wnl.49.2.552

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Article

The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred.

Neurology - 1 Aug 1997

McLean C A, Storey E, Gardner R J, Tannenberg A E, Cervenáková L, Brown P

Abstract excerpt

Fatal familial insomnia (FFI) is an inherited prion disease characterized by progressive insomnia and dysautonomia with only modest cognitive impairment early in the disease, associated with atrophy and gliosis in the medial thalamus, but without spongiform change. FFI is associated with an aspartic acid to asparagine mutation at codon 178 of the PrP gene (D178N) in conjunction with methionine at the codon 129...

Topics

Adult
Australia
Brain
Female
Humans
Ireland
Male
Middle Aged
Mutation
Pedigree
Phenotype
Prion Diseases
Prions

Source

Open in PubMed

Identifiers

PMID: 9270595
DOI: 10.1212/wnl.49.2.552

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