Genotype-phenotype correlation: Familial Parkinson disease

被引：16

作者：

Mori, H ^{[1
]}

Hattori, N ^{[1
]}

Mizuno, Y ^{[1
]}

机构：

[1] Juntendo Univ, Sch Med, Dept Neurol, Bunkyo Ku, Tokyo 113, Japan

来源：

NEUROPATHOLOGY | 2003年 / 23卷 / 01期

关键词：

alpha; -; synuclein; familial Parkinson disease; Park; 1; 2; Parkin;

D O I：

10.1046/j.1440-1789.2003.00476.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Kindreds with Mendelian inheritance of Parkinson disease (PD) have been known since a long time ago. Nine loci have been mapped in familial PD by linkage study and four causative genes have been cloned. This paper discusses Park 1 and Park 2, the identification of which has brought about many advances in the studies on pathomechanism of PD. Investigations of these genes in familial PD have expanded their clinical and pathological phenotypes. However, to clarify the effect of mutations on these phenotypes, additional post-mortem neuropathological studies are required.

引用

页码：90 / 94

页数：5

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