Hereditary spastic paraplegias: membrane traffic and the motor pathway

被引：238

作者：

Blackstone, Craig ^{[3
]}

O'Kane, Cahir J. ^{[2
]}

Reid, Evan ^{[1
]}

机构：

[1] Univ Cambridge, Dept Med Genet, Cambridge Inst Med Res, Addenbrookes Hosp, Cambridge CB2 0XY, England

[2] Univ Cambridge, Dept Genet, Cambridge CB2 3EH, England

[3] NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

来源：

NATURE REVIEWS NEUROSCIENCE | 2011年 / 12卷 / 01期

基金：

美国国家卫生研究院; 英国惠康基金; 英国医学研究理事会;

关键词：

AMYOTROPHIC-LATERAL-SCLEROSIS; REGULATES SYNAPTIC GROWTH; AXONAL-TRANSPORT; NUCLEOTIDE EXCHANGE; DISTAL AXONOPATHY; COMPLICATED FORM; STRUCTURAL BASIS; ESCRT MACHINERY; PROTEIN SPASTIN; TROYER-SYNDROME;

D O I：

10.1038/nrn2946

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Voluntary movement is a fundamental way in which animals respond to, and interact with, their environment. In mammals, the main CNS pathway controlling voluntary movement is the corticospinal tract, which encompasses connections between the cerebral motor cortex and the spinal cord. Hereditary spastic paraplegias (HSPs) are a group of genetic disorders that lead to a length-dependent, distal axonopathy of fibres of the corticospinal tract, causing lower limb spasticity and weakness. Recent work aimed at elucidating the molecular cell biology underlying the HSPs has revealed the importance of basic cellular processes-especially membrane trafficking and organelle morphogenesis and distribution-in axonal maintenance and degeneration.

引用

页码：31 / 42

页数：12

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