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Article

Fatal familial insomnia

1 Mar 1998

Abstract excerpt

Fatal familial insomnia (FFI) is an inherited prion disease linked to a mutation at codon 178 of the PRNP gene that results in aspartic acid to asparagine substitution, in coupling phase with methionine at position 129. The disease is characterized clinically by insomnia with disturbances of the autonomic, endocrine, and motor systems and neuropathologically by selective degeneration of the thalamus. Phenotypic...

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Identifiers

PMID: 9521257
DOI: 10.1212/wnl.50.3.688

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Fatal familial insomniaPMID 9521257Read ↗

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Does the clinical phenotype of fatal familial insomnia depend on PRNP codon 129 methionine-valine polymorphism?Semantic proximity Read ↗

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