“家族性帕金森病”——一项针对家庭的病例对照研究。

"Familial Parkinson's disease"--a case-control study of families.

作者信息

Uitti R J, Shinotoh H, Hayward M, Schulzer M, Mak E, Calne D B

机构信息

Neurodegenerative Disorders Centre, University of British Columbia, Vancouver.

出版信息

Can J Neurol Sci. 1997 May;24(2):127-32. doi: 10.1017/s0317167100021454.

DOI:10.1017/s0317167100021454

PMID:9164689

Abstract

BACKGROUND

Parkinson's disease (PD) patients frequently report a family history of PD and this may provide etiological clues to PD. It has also been suggested that a report of a negative family history is reliable. We studied the prevalence of PD in relatives of PD patients to assess the reliability of family history and to evaluate possible explanations of "familial PD" (fPD).

METHODS

81 of 650 (12.5%) PD probands (all PD patients seen at clinic in 4 years) reported a positive family history of PD. Each fPD proband was matched with non-familial PD (nfPD) proband by gender and year of birth. Screening and follow-up questionnaires were mailed to relatives to obtain information concerning pedigree and presence of neurodegenerative disease. Available family members (regardless of disease status) were examined.

RESULTS

On examination, 8 persons, said to be "normal" by probands, relatives and themselves, had definite or possible PD (5 fPD, 3 nfPD). The prevalence rate of PD among first and second degree living relatives of probands varied significantly between fPD and nfPD groups (6269/100,000 versus 1190/100,000; p < 0.001). The weighted prevalence (taking into account the proportions of fPD and nfPD within the clinic) was 1822/100,000, a value more than 5 times higher than reported prevalence rates of PD in the general population (p < 0.001). The prevalence rate was greater in first degree relatives than second degree.

CONCLUSIONS

"Familial parkinsonism" cannot be explained merely by size of or advanced age within families. Significant numbers of previously unrecognized PD patients may be identified despite a "negative" family history. That is, the patient's report of an absence of familial parkinsonism is frequently inaccurate. The prevalence rate in relatives of PD patients appears to be higher than the general population-regardless of the family history reported by a PD patient. We believe our study suggests that genetic influences or early life environmental exposures are likely to be of etiological importance in PD.

摘要

背景

帕金森病（PD）患者经常报告有PD家族史，这可能为PD的病因提供线索。也有人认为，家族史阴性的报告是可靠的。我们研究了PD患者亲属中PD的患病率，以评估家族史的可靠性，并评估“家族性PD”（fPD）的可能解释。

方法

650名PD先证者（4年内诊所接诊的所有PD患者）中有81名（12.5%）报告有PD家族史阳性。每个fPD先证者与非家族性PD（nfPD）先证者按性别和出生年份进行匹配。向亲属邮寄筛查和随访问卷，以获取有关家系和神经退行性疾病存在情况的信息。对所有可找到的家庭成员（无论疾病状态如何）进行检查。

结果

经检查，8名被先证者、亲属及他们自己认为“正常”的人患有明确或可能的PD（5名fPD，3名nfPD）。先证者的一级和二级在世亲属中PD的患病率在fPD组和nfPD组之间有显著差异（6269/10万对1190/10万；p<0.001）。加权患病率（考虑诊所内fPD和nfPD的比例）为1822/10万，该值比一般人群中报告的PD患病率高出5倍多（p<0.001）。一级亲属中的患病率高于二级亲属。

结论

“家族性帕金森症”不能仅用家族规模或高龄来解释。尽管有“阴性”家族史，但仍可识别出大量以前未被认识的PD患者。也就是说，患者关于无家族性帕金森症的报告往往不准确。PD患者亲属中的患病率似乎高于一般人群——无论PD患者报告的家族史如何。我们认为我们的研究表明，遗传影响或早年的环境暴露可能在PD病因中具有重要意义。