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[家族性帕金森病]

[Familial Parkinson disease].

作者信息

Mauri J A, Asensio M, Jiménez A, Huerta J R, Redondo M J, del Villar V

机构信息

Servicio de Medicina Interna, Hospital del INSALUD, Soria.

出版信息

Neurologia. 1990 Feb;5(2):45-7.

PMID:2361035
Abstract

We report the clinical findings and the pedigree of 10 patients of a family from Blacos, a small village in the Soria province, who had Parkinson's disease and in whom secondary causes and other diseases such as essential tremor or OPCA, to be considered in the differential diagnosis, had been ruled out. There were 6 males and 4 females with a mean age of 72.1 years; the mean age at the onset of symptoms was 67 years. All had the akinetic-rigid type of disease, and associated tremor was present in two cases. 90% were in functional classes I-II of the UPRS (United Parkinson's disease Rating Scale). 50% are presently receiving levodopa therapy, and only one has complications due to it. Emphasis is made on the etiological and pathogenetical heterogeneity of Parkinson's disease, where exogenous factors are probably superimposed to a genetic susceptibility.

摘要

我们报告了来自索里亚省一个小村庄布拉科斯的一个家族中10例帕金森病患者的临床发现和家系情况。这些患者已排除继发性病因以及鉴别诊断中需考虑的其他疾病,如特发性震颤或橄榄桥脑小脑萎缩(OPCA)。该家族中有6名男性和4名女性,平均年龄为72.1岁;症状出现时的平均年龄为67岁。所有患者均为运动不能 - 强直型疾病,2例伴有震颤。90%的患者处于统一帕金森病评定量表(UPRS)的I - II功能分级。50%的患者目前正在接受左旋多巴治疗,且仅有1例出现相关并发症。强调帕金森病病因和发病机制的异质性,其中外源性因素可能叠加于遗传易感性之上。

相似文献

1
[Familial Parkinson disease].[家族性帕金森病]
Neurologia. 1990 Feb;5(2):45-7.
2
Young onset Parkinson's disease.早发型帕金森病
Mov Disord. 1987;2(2):73-91. doi: 10.1002/mds.870020201.
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Clinical genetic analysis of Parkinson's disease in the Contursi kindred.孔图尔西家族帕金森病的临床基因分析
Ann Neurol. 1996 Nov;40(5):767-75. doi: 10.1002/ana.410400513.
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Environmental, medical, and family history risk factors for Parkinson's disease: a New England-based case control study.帕金森病的环境、医学和家族史风险因素:一项基于新英格兰地区的病例对照研究。
Am J Med Genet. 1999 Dec 15;88(6):742-9.
5
[Incidence and clinical profile of familial forms of Parkinson's disease. A study of 428 index-cases from a department of neurology].[帕金森病家族性形式的发病率及临床特征。对某神经内科428例索引病例的研究]
Rev Neurol (Paris). 1997 Jul;153(6-7):406-11.
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Increased risk of essential tremor in first-degree relatives of patients with Parkinson's disease.帕金森病患者一级亲属患特发性震颤的风险增加。
Mov Disord. 2007 Aug 15;22(11):1607-14. doi: 10.1002/mds.21584.
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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.
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Clinical features of familial Parkinson's disease in Thai patients.泰国患者家族性帕金森病的临床特征
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Differences in age at onset and familial aggregation between clinical types of idiopathic Parkinson's disease.特发性帕金森病临床类型之间发病年龄和家族聚集性的差异。
Mov Disord. 2004 Sep;19(9):1059-64. doi: 10.1002/mds.20061.
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Study of familial Parkinson's disease in Russia, Uzbekistan, and Zambia.俄罗斯、乌兹别克斯坦和赞比亚的家族性帕金森病研究。
Postgrad Med J. 2005 Feb;81(952):117-21. doi: 10.1136/pgmj.2004.018705.

引用本文的文献

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Spatial distribution of Parkinson's disease mortality in Spain, 1989-1998, as a guide for focused aetiological research or health-care intervention.西班牙 1989-1998 年帕金森病死亡率的空间分布,为有针对性的病因研究或医疗干预提供指导。
BMC Public Health. 2009 Dec 2;9:445. doi: 10.1186/1471-2458-9-445.