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帕金森病:一项遗传学研究。

Parkinson's disease: a genetic study.

作者信息

Alonso M E, Otero E, D'Regules R, Figueroa H H

出版信息

Can J Neurol Sci. 1986 Aug;13(3):248-51. doi: 10.1017/s0317167100036362.

DOI:10.1017/s0317167100036362
PMID:3742341
Abstract

A sample of 122 patients with Parkinson's Disease was studied for the purpose of investigating if the frequency of relatives affected with Parkinson in this group was higher than in a control group and to see if the genetic load was more important in some of the subtypes of Parkinson described by Barbeau and Pourcher (1982). In our 122 patients, we found that 1.7% were post-encephalic parkinsonian, 12.3% were symptomatic cases and 86% of the idiopathic variety. There were 16.1% early onset patients in the idiopathic group and among these we found 23.5% with a positive family history of Parkinson in the first-degree relatives. In 6 cases with the tremor onset form of the disease, the family history was positive and 5 patients, 4.7% had familial essential tremor-related Parkinsonism. Our results support Barbeau's hypothesis that Parkinson is a heterogeneous disease in which some subtypes (such as early onset Parkinson) have an important genetic susceptibility component.

摘要

为了调查该组帕金森病患者中亲属患帕金森病的频率是否高于对照组,并了解在Barbeau和Pourcher(1982年)描述的某些帕金森病亚型中遗传负荷是否更为重要,对122例帕金森病患者进行了研究。在我们的122例患者中,我们发现1.7%为脑炎后帕金森病患者,12.3%为症状性病例,86%为特发性类型。特发性组中有16.1%的早发患者,在这些患者中,我们发现23.5%的患者一级亲属中有帕金森病的阳性家族史。在6例以震颤起病形式发病的患者中,家族史呈阳性,5例患者(4.7%)患有家族性特发性震颤相关性帕金森病。我们的结果支持Barbeau的假设,即帕金森病是一种异质性疾病,其中一些亚型(如早发性帕金森病)具有重要的遗传易感性成分。

相似文献

1
Parkinson's disease: a genetic study.帕金森病:一项遗传学研究。
Can J Neurol Sci. 1986 Aug;13(3):248-51. doi: 10.1017/s0317167100036362.
2
A prospective study of 50 cases of familial Parkinson's disease.一项对50例家族性帕金森病患者的前瞻性研究。
Can J Neurol Sci. 1983 Feb;10(1):37-42. doi: 10.1017/s0317167100044541.
3
Young onset Parkinson's disease.早发型帕金森病
Mov Disord. 1987;2(2):73-91. doi: 10.1002/mds.870020201.
4
Familial subsets in idiopathic Parkinson's disease.特发性帕金森病的家族性亚组
Can J Neurol Sci. 1984 Feb;11(1 Suppl):144-50. doi: 10.1017/s0317167100046308.
5
Is Parkinson's disease acquired or inherited?帕金森病是后天获得的还是遗传的?
Can J Neurol Sci. 1984 Feb;11(1 Suppl):151-5. doi: 10.1017/s031716710004631x.
6
New data on the genetics of Parkinson's disease.帕金森病遗传学的新数据。
Can J Neurol Sci. 1982 Feb;9(1):53-60. doi: 10.1017/s031716710004364x.
7
A genetic study of Parkinson's disease.帕金森病的一项遗传学研究。
J Neural Transm Suppl. 1995;45:21-5.
8
Chapter 33: the history of movement disorders.第33章:运动障碍病史。
Handb Clin Neurol. 2010;95:501-46. doi: 10.1016/S0072-9752(08)02133-7.
9
Association between essential tremor and Parkinson's disease.特发性震颤与帕金森病之间的关联。
Ann Neurol. 1985 Apr;17(4):329-33. doi: 10.1002/ana.410170404.
10
Genetic studies in Parkinson's disease.
Adv Neurol. 1984;40:333-9.

引用本文的文献

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Meta-analyses of seven polymorphisms with Parkinson's disease.帕金森病七种多态性的荟萃分析。
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2
Genetics of Parkinson disease.帕金森病的遗传学
NeuroRx. 2004 Apr;1(2):235-42. doi: 10.1602/neurorx.1.2.235.
3
A case of Creutzfeldt-Jakob disease presenting with cortical deafness.
J Neurol Neurosurg Psychiatry. 1994 Jul;57(7):872-3. doi: 10.1136/jnnp.57.7.872.
4
Familial Parkinson's disease and polymorphism at the CYP2D6 locus.家族性帕金森病与细胞色素P450 2D6基因座的多态性
J Neurol Neurosurg Psychiatry. 1994 Jul;57(7):871-2. doi: 10.1136/jnnp.57.7.871.
5
A parkinsonian kindred.
Ital J Neurol Sci. 1989 Jun;10(3):307-10. doi: 10.1007/BF02333776.