Tabernero C, Polo J M, Sevillano M D, Muñoz R, Berciano J, Cabello A, Báez B, Ricoy J R, Carpizo R, Figols J, Cuadrado N, Claveria L E
Neurology Section, Hospital General de Segovia, ctra de Avila sn, 40001 Segovia, Spain.
J Neurol Neurosurg Psychiatry. 2000 Jun;68(6):774-7. doi: 10.1136/jnnp.68.6.774.
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.
本文报告了一个受致死性家族性失眠症影响的西班牙家庭中三名成员的临床表现及病情发展、神经病理学发现和基因分型。母亲及其两名子女患有一种快速进展的疾病，最初症状为失眠和行为障碍，发病后5至10个月内死亡。母亲的额叶脑活检仅显示无明显意义的海绵状改变，其子女的全面神经病理学检查显示丘脑和橄榄核变性，伴有孤立的局灶性皮质海绵状改变。基因检测仅对在世患者进行，两人均携带朊蛋白（PrP）178Asn突变和纯合子129 Met/Met基因型。
