Department of Neurology, Xuan Wu Hospital, Capital University of Medical Sciences, Beijing, PR China.
Acta Neurol Scand. 2010 Jun;121(6):377-83. doi: 10.1111/j.1600-0404.2009.01236.x. Epub 2009 Dec 17.
Recent evidence has shown clinical phenotypic heterogeneity of inherited prion diseases, even between patients harbouring the same mutation in the PRNP gene.
We collected clinical data from a Chinese family with autosomal dominant dementia and screened the PRNP gene on 28 living members. A stereotactic biopsy of the right frontal lobe of the proband was performed.
The family comprised four affected individuals within two successive generations. The age of onset was in 30 or 40 s, and the duration was about 2-3 years. Clinical features of the affected members included neuropsychiatric disturbances, progressive dementia and extrapyramidal symptoms. Immunostaining for prion protein showed fine granular deposits of PrP(sc) in the neuropil. The PRNP gene analysis demonstrated a heterozygous G114V mutation in 15 family members. The proband was diagnosed as familial Creutzfeldt-Jakob disease (fCJD).
This study strengthens the linkage of the G114V mutation to CJD. It supports the worldwide distribution of fCJD despite differences in genetic background.
最近的证据表明，遗传性朊病毒病的临床表型存在异质性，即使是在携带 PRNP 基因突变相同的患者之间也是如此。
我们收集了一个中国常染色体显性遗传性痴呆家族的临床资料，并对 28 名在世的成员进行了 PRNP 基因筛查。对先证者的右侧额叶进行了立体定向活检。
该家族包括两代中的 4 名受累个体。发病年龄在 30 或 40 多岁，病程约为 2-3 年。受累成员的临床特征包括神经精神障碍、进行性痴呆和锥体外系症状。朊病毒蛋白免疫染色显示神经原纤维中有 PrP(sc)的细颗粒沉积。PRNP 基因分析显示 15 名家族成员存在杂合 G114V 突变。先证者被诊断为家族性克雅氏病（fCJD）。
本研究加强了 G114V 突变与 CJD 的关联性。它支持了 fCJD 的全球分布，尽管存在遗传背景的差异。
