Is the transportation highway the right road for hereditary spastic paraplegia?

被引:103
作者
Crosby, AH
Proukakis, C
机构
[1] Univ London St Georges Hosp, Sch Med, Dept Med Genet, London SW17 0RE, England
[2] UCL Royal Free & Univ Coll Med Sch, Dept Clin Neurosci, London, England
基金
英国惠康基金;
关键词
D O I
10.1086/344206
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The term "hereditary spastic paraplegia" (HSP) refers to a genetically and clinically diverse group of disorders whose primary feature is progressive spasticity of the lower extremities. The condition arises because of degeneration of the longest motor and sensory axons on the spinal cord, which appear to be most sensitive to the underlying mutations. The marked genetic heterogeneity in HSP, with 20 loci chromosomally mapped and eight genes now identified, suggests that a number of defective cellular processes may be shown to result in the disease. Although previous studies have suggested a mitochondrial basis for at least one form of the disease, a mechanism common to a number of the other genes mutated in HSP has remained elusive until now. The identification of the most recent genes for the condition suggests that aberrant cellular-trafficking dynamics may be a common process responsible for the specific pattern of neurodegeneration seen in HSP.
引用
收藏
页码:1009 / 1016
页数:8
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