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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
1992-2-21
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pubmed:abstractText |
We previously described two members of a family affected by an apparently genetically determined fatal disease characterized clinically by progressive insomnia, dysautonomia, and motor signs and characterized pathologically by severe atrophy of the anterior ventral and mediodorsal thalamic nuclei. Five other family members who died of this disease, which we termed "fatal familial insomnia," had broader neuropathologic changes suggesting that fatal familial insomnia could be a prion disease.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0028-4793
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
13
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pubmed:volume |
326
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
444-9
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:1346338-Adolescent,
pubmed-meshheading:1346338-Adult,
pubmed-meshheading:1346338-Base Sequence,
pubmed-meshheading:1346338-Brain Chemistry,
pubmed-meshheading:1346338-Codon,
pubmed-meshheading:1346338-Creutzfeldt-Jakob Syndrome,
pubmed-meshheading:1346338-Dysautonomia, Familial,
pubmed-meshheading:1346338-Endopeptidase K,
pubmed-meshheading:1346338-Genetic Linkage,
pubmed-meshheading:1346338-Humans,
pubmed-meshheading:1346338-Lod Score,
pubmed-meshheading:1346338-Middle Aged,
pubmed-meshheading:1346338-Molecular Sequence Data,
pubmed-meshheading:1346338-Mutation,
pubmed-meshheading:1346338-PrPSc Proteins,
pubmed-meshheading:1346338-Prions,
pubmed-meshheading:1346338-Serine Endopeptidases,
pubmed-meshheading:1346338-Sleep Initiation and Maintenance Disorders,
pubmed-meshheading:1346338-Slow Virus Diseases,
pubmed-meshheading:1346338-Thalamic Nuclei
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pubmed:year |
1992
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pubmed:articleTitle |
Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.
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pubmed:affiliation |
Division of Neuropathology, Case Western Reserve University, Cleveland, OH 44106.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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