NR AJDM
AU Padovani,A.; D'Alessandro,M.; Parchi,P.; Cortelli,P.; Anzola,G.P.; Montagna,P.; Vignolo,L.A.; Petraroli,R.; Pocchiari,M.; Lugaresi,E.; Gambetti,P.
TI Fatal familial insomnia in a new Italian kindred
QU Neurology 1998 Nov; 51(5): 1491-4
PT journal article
AB 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 (PrPres) 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 PrPres distribution in FFI.
MH Age of Onset; Brain/*pathology; Case Report; Codon; Cognition Disorders; Female; Heterozygote; Homozygote; Human; Italy; Male; Middle Age; Pedigree; Point Mutation; PrPsc Proteins/*analysis; Prion Diseases/*genetics/pathology/physiopathology/psychology; Sleep Disorders; Support, Non-U.S. Gov't; Support, U.S. Gov't, P.H.S.
AD Clinica Neurologica, Universita degli Studi di Brescia, Italy.
SP englisch
PO USA