Suppr超能文献

[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。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验