1. Fatal familial insomnia in a new Italian kindred.
- Author
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Padovani A, D'Alessandro M, Parchi P, Cortelli P, Anzola GP, Montagna P, Vignolo LA, Petraroli R, Pocchiari M, Lugaresi E, and Gambetti P
- Subjects
- Age of Onset, Codon, Cognition Disorders, Female, Heterozygote, Homozygote, Humans, Italy, Male, Middle Aged, Pedigree, Point Mutation, Prion Diseases pathology, Prion Diseases physiopathology, Prion Diseases psychology, Sleep Wake Disorders, Brain pathology, PrPSc Proteins analysis, Prion Diseases genetics
- Abstract
The authors report a new kindred with fatal familial insomnia (FFI)--an inherited prion disease. The propositus had behavioral, sleep, cognitive, and motor impairment associated with thalamic and olivary atrophy. Spongiosis was confined to the parahippocampal gyrus. Protease-resistant prion protein (PrP(res)) was present with widespread distribution. The propositus fits the histopathology of FFI with similar clinical duration and confirms the role of disease duration in determining histopathology and PrP(res) distribution in FFI.
- Published
- 1998
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