致死性家族性失眠症的临床特点及PRNP基因突变分析_刘志军.pdfVIP

中国临床神经科学2012 年第20 卷第6 期 Chin J Clin Neurosci 2012,20 (6),653~657 653 论 著 致死性家族性失眠症的临床特点及PRNP基因突变分析 1 , 2 1 1 1 1 刘志军 ，赵桂宪 ，邬剑军 ，王 坚 ，吴志英 1 2 ( 复旦大学附属华山医院神经内科200040 ；福建医科大学附属第一医院神经内科350005) 关键词 致死性家族性失眠症；临床特点；PRNP基因；基因突变 摘要 目的：探讨中国致死性家族性失眠症(FFI)患者的临床及PRNP 基因突变特点。方法：对一个FFI 家系进行调查 并综合分析先证者的临床资料；应用PCR 技术结合DNA 直接测序方法对先证者进行PRNP 基因的突变筛查；回顾分析 中国已报道的FFI 先证者的临床特点。结果：在该先证者检出PRNP 基因2 号外显子上的c.532GA(p.D 178N)突变及 c. 385AA(p.129MM)多态，据此可确诊为FFI 。Meta 分析提示中国FFI 患者的临床表现均较典型，PRNP 基因单体型均 为D 178N- 129MM 。结论：尽管FFI 患者的临床表现较典型，但对临床上疑为FFI 的患者，仍应进行PRNP 基因突变 筛查以助确诊。 Clinical Features and Mutation Analysis of PRNP Gene in Chinese Patients with Fatal Familial 1,2 1 1 1 1 1 Insomnia LI U Zhi-Jun , ZHA O Gui-X ian , WU J ian-Jun , WAN G Jian , WU Zhi-Ying Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040; 2Department of Neurology, the First Hospital Affiliated to Fuj ian Medical University, Fuzhou 350005, China KRY WORDS fatal familial insomnia; clinical features; PRNP gene; gene mutation ABSTRACT Aim: To investigate the clinical features and characteristics of PRNP gene mutation in Chinese patients with fatal familial insomnia (FFI). Methods: The mutation analysis of PRNP was performed via DNA direct sequencing in one Chinese patient with FFI and the clinical data were retrospectively analyzed. Results: The heterozygous mutation c.532GA (p.D 178N) and the single nucleotide polymorphism (SNP) of c.385AA genotype (p.129MM) were found in the proband who therefore could be identified as FFI. The clinical features of Chinese FFI patients were typical and the h