A GREEK-AMERICAN KINDRED WITH AUTOSOMAL-DOMINANT, LEVODOPA-RESPONSIVE PARKINSONISM AND ANTICIPATION
A GREEK-AMERICAN KINDRED WITH AUTOSOMAL-DOMINANT, LEVODOPA-RESPONSIVE PARKINSONISM AND ANTICIPATION
复制标题
DOI：
10.1002/ana.410380306
复制
发表时间：
1995-09-01
影响因子：
11.2
通讯作者：
PFEIFFER, RF
中科院分区：
文献类型：
--
作者：
MARKOPOULOU, K;WSZOLEK, ZK;PFEIFFER, RF
关于遗传因素在帕金森病病因学中的作用的兴趣正在增加。我们报告的分析希腊裔美国人的亲属与左旋多巴反应性帕金森病。在这个家系的六代中的98个个体中，连续三代中有16个个体发展为帕金森综合征。受影响的成员在希腊和美国接受了检查。临床表现包括不对称强直、静止性震颤、运动迟缓和姿势不稳定，并且症状对左旋多巴有反应，该疾病似乎以常染色体显性方式遗传，两大洲连续几代帕金森综合征的遗传模式和发展挑战了环境因素作为该家族帕金森综合征发病机制的主要原因，在这个谱系中存在期待。第三代受影响的成员在50至71岁时出现症状，第四代在40至55岁，第五代在31岁时出现症状。这是另一个常染色体显性遗传的神经退行性疾病的例子。对该家系的分子遗传学分析正在进行中。
Interest is increasing concerning the role of genetic factors in the etiology of Parkinson's disease. We report the analysis of a Greek-American kindred with levodopa-responsive parkinsonism. Of the 98 individuals present in six generations of this pedigree, 16 individuals in three successive generations have developed parkinsonism. Affected members were examined both in Greece and in the United States. The clinical presentation consisted of asymmetric rigidity, resting tremor, bradykinesia, and postural instability, and symptoms were responsive to levodopa, The disease appears to be inherited in an autosomal dominant manner, The inheritance pattern and the development of parkinsonism in successive generations on two continents challenges environmental factors as the primary cause in the pathogenesis of parkinsonism in this kindred, Anticipation is present in this pedigree. The affected members in the third generation developed symptoms at ages 50 to 71, in the fourth at ages 40 to 55, and in the fifth at age 31 years. This is another example of a neurodegenerative disease with autosomal dominant inheritance and anticipation. A molecular genetic analysis of this pedigree is in progress.