A CLINICAL AND GENETIC-STUDY OF FAMILIAL PARKINSONS-DISEASE

被引:135
作者
MARAGANORE, DM
HARDING, AE
MARSDEN, CD
机构
[1] University Department of Clinical Neurology, Institute of Neurology, London, Queen Square
关键词
PARKINSONS DISEASE; GENETICS;
D O I
10.1002/mds.870060303
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The clinical features of familial Parkinson's disease (PD) were investigated by examining the families of 20 British probands who were selected on the basis of having clinically typical PD and at least one affected relative. Forty-nine secondary cases were identified. These subjects were clinically indistinguishable from sporadic cases of idiopathic PD. If it is assumed that familial PD has a genetic basis, pedigree and segregation analysis suggested autosomal dominant inheritance of a gene or genes with reduced penetrance as the most likely explanation. The data did not support the possibilities of either mitochondrial or polygenic inheritance, although the latter cannot be excluded. The role of genetic factors in sporadic cases of PD remains unclear.
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页码:205 / 211
页数:7
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