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[三个帕金森病家族的纵向研究]

[Longitudinal study of three families with familial Parkinson's disease].

作者信息

Baltasar-Rodríguez Luz Margarita, Millán-Guerrero Rebeca O, Aceves-Themsel Roberto, Isais-Millán Sara, Delgado-Enciso Iván

机构信息

Laboratorio de Genética, Centro Universitario de Investigaciones Biomédicas, Facultad de Medicina, Universidad de Colima, Colima, Col., México.

出版信息

Gac Med Mex. 2006 Sep-Oct;142(5):387-91.

Abstract

BACKGROUND

Familial Parkinson's is a variant of Parkinson's disease (PD) transmitted generationally with an early onset.

OBJECTIVE

Describe the clinical disease characteristics and its 18 year evolution among families in Colima presenting familial PD.

MATERIALS AND METHODS

We determined disease diagnosis, evolution and hereditary pattern. The UPDRS system was used to follow the longitudinal course of the disease. Descriptive statistics were carried out using means and percentages.

RESULTS

Three families were studied, with a total of 51 subjects aged 29 +/- 22 years spanning 4 generations. Thirty-seven percent of studied subjects displayed familial PD, with disease onset at 24 +/- 9 years of age. The highest UPDRS value was 175. Disease transmission with a dominant autosomic heredity pattern was shown. One hundred percent of first and second generation members from family number 1 displayed the disease.

CONCLUSIONS

The three families displayed early onset PD and rapid progression, coinciding with described characteristics of type 1 familial Parkinsonism (PARK1). This disease is caused by the Ala53Thr mutation of the alpha-synuclein gene.

摘要

背景

家族性帕金森病是帕金森病(PD)的一种变体,具有早发性且可代代相传。

目的

描述科利马家族性帕金森病家族的临床疾病特征及其18年的病情演变。

材料与方法

我们确定了疾病诊断、病情演变和遗传模式。采用统一帕金森病评定量表(UPDRS)系统来跟踪疾病的纵向病程。使用均值和百分比进行描述性统计。

结果

研究了三个家族,共有51名年龄在29±22岁之间的受试者,跨越4代。37%的研究对象患有家族性帕金森病,发病年龄为24±9岁。UPDRS最高值为175。显示为常染色体显性遗传模式。家族1的第一代和第二代成员100%患有该病。

结论

这三个家族表现出早发性帕金森病且进展迅速,与1型家族性帕金森病(PARK1)的描述特征相符。这种疾病由α-突触核蛋白基因的Ala53Thr突变引起。

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