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
Clinica Neurologica, Università degli Studi di Brescia, Italy.
Neurology. 1998 Nov;51(5):1491-4. doi: 10.1212/wnl.51.5.1491.
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.
作者报告了一个患有致命性家族性失眠症（FFI）——一种遗传性朊病毒病的新家族。先证者存在与丘脑和橄榄体萎缩相关的行为、睡眠、认知和运动障碍。海绵状病变局限于海马旁回。蛋白酶抗性朊病毒蛋白（PrP(res)）广泛分布。该先证者符合FFI的组织病理学表现，临床病程相似，并证实了病程在决定FFI的组织病理学和PrP(res)分布中的作用。
