Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family
The clinical presentation and evolution, neuropathological findings, and genotyping of three members of a Spanish family affected with fatal familial insomnia are reported. The mother and two of her offspring developed a rapidly evolving disease with insomnia and behavioural disorders as the initial...
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Published in | Journal of neurology, neurosurgery and psychiatry Vol. 68; no. 6; pp. 774 - 777 |
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Main Authors | , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
England
BMJ Publishing Group Ltd
01.06.2000
BMJ Publishing Group LTD BMJ Group |
Subjects | |
Online Access | Get full text |
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Summary: | The clinical presentation and evolution, neuropathological findings, and genotyping of three members of a Spanish family affected with fatal familial insomnia are reported. The mother and two of her offspring developed a rapidly evolving disease with insomnia and behavioural disorders as the initial symptoms and died between 5 and 10 months after the onset of the illness. Frontal brain biopsy in the mother disclosed only non-significant spongiosis, and full neuropathological examination of her offspring showed thalamic and olivary degeneration with isolated focal cortical spongiosis. Genetic examination could only be performed in the contemporary patients and both harboured the prion protein (PrP) 178Asn mutation and homozygous 129 Met/Met genotype. |
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Bibliography: | ark:/67375/NVC-B22HWFQF-T href:jnnp-68-774.pdf istex:184E802BF6C5C76629157479D4D4B0F34B148E8B PMID:10811705 local:jnnp;68/6/774 ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 0022-3050 1468-330X |
DOI: | 10.1136/jnnp.68.6.774 |