Krasnianski Anna, von Ahsen Nicolas, Heinemann Uta, Meissner Bettina, Schulz-Schaeffer Walter J, Kretzschmar Hans A, Armstrong Victor W, Zerr Inga
National Reference Center for the Surveillance of TSE, Department of Neurology, Georg-August University Göttingen, Robert-Koch Str. 40, D-37075 Göttingen, Germany.
Neurobiol Aging. 2009 Apr;30(4):615-21. doi: 10.1016/j.neurobiolaging.2007.07.014. Epub 2007 Sep 5.
To analyze whether a positive family history of dementia (PFHD) is more common in sporadic CJD (sCJD) than in healthy/population controls and to study associated risk factors.
PATIENTS/METHODS: Six hundred and eighty-five sCJD patients and 659 sex-/age-matched controls were included. A PFHD in parents/grandparents/siblings was evaluated. The PRNP M129V polymorphism and ApoE genotype in sCJD with/without PFHD were determined by PCR.
PFHD was found in 12.1% of sCJD patients and 5.6% of controls (p<0.001). No significant difference in M129V polymorphism was found between sCJD with and without PFHD. Thirty-six percent of sCJD patients with PFHD, 26% without PFHD and 19% of healthy controls had at least one ApoE4 allele. Compared to controls, ApoE4 allele frequency (p=0.005) and proportion of ApoE4 allele carriers (p=0.019) were significantly higher in sCJD with PFHD.
A higher frequency of the ApoE4 allele in sCJD with a PFHD could be indicative of an additional risk factor in CJD.
分析痴呆症家族史阳性（PFHD）在散发性克雅氏病（sCJD）中是否比在健康/人群对照中更常见，并研究相关危险因素。
患者/方法：纳入685例sCJD患者和659例性别/年龄匹配的对照。评估父母/祖父母/兄弟姐妹中的PFHD情况。通过聚合酶链反应（PCR）测定有/无PFHD的sCJD患者的PRNP M129V多态性和载脂蛋白E（ApoE）基因型。
12.1%的sCJD患者存在PFHD，而对照中这一比例为5.6%（p<0.001）。有PFHD和无PFHD的sCJD患者在M129V多态性方面未发现显著差异。36%有PFHD的sCJD患者、26%无PFHD的sCJD患者以及19%的健康对照至少有一个ApoE4等位基因。与对照相比，有PFHD的sCJD患者中ApoE4等位基因频率（p=0.005）和ApoE4等位基因携带者比例（p=0.019）显著更高。
有PFHD的sCJD患者中ApoE4等位基因频率较高可能表明克雅氏病存在额外的危险因素。
