Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias

被引:122
作者
Reid, E [1 ]
机构
[1] Univ Cambridge, Dept Med Genet, Addenbrookes Hosp, Cambridge CB2 2QQ, England
关键词
D O I
10.1136/jmg.40.2.81
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The hereditary spastic paraplegias are a group of neurodegenerative conditions that all share the principal clinical feature of progressive lower limb spastic paralysis, caused by either failure of development or progressive degeneration of the corticospinal tract. The conditions are characterised by extreme genetic heterogeneity, with at least 20 genes involved. Until recently, no functional overlap was apparent in the associated molecular pathological mechanisms. However, with recent progress in hereditary spastic paraplegia gene identification, common pathological themes are now emerging.
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页码:81 / 86
页数:6
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