Cellular pathways of hereditary spastic paraplegia.
Cellular pathways of hereditary spastic paraplegia.
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DOI：
10.1146/annurev-neuro-062111-150400
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发表时间：
2012
影响因子：
13.9
通讯作者：
Blackstone C
中科院分区：
文献类型：
--
作者：
Blackstone C
人的随意运动是由锥体运动系统控制的，锥体运动系统是包括皮质脊髓神经元和下运动神经元的长CNS通路。遗传性痉挛性截瘫（HSP）是一个庞大的，遗传多样性的遗传性神经系统疾病，其特征是长度依赖性远端轴突病变的皮质脊髓束，导致下肢痉挛和无力。一系列的研究都集中在细胞器，特别是内质网，以及细胞内膜的运输和分布的主要缺陷的热休克蛋白，与其他长轴突病变影响周围神经和下运动神经元的变化。
Human voluntary movement is controlled by the pyramidal motor system, a long CNS pathway comprising corticospinal and lower motor neurons. Hereditary spastic paraplegias (HSPs) are a large, genetically diverse group of inherited neurologic disorders characterized by a length-dependent distal axonopathy of the corticospinal tracts, resulting in lower limb spasticity and weakness. A range of studies are converging on alterations in the shaping of organelles, particularly the endoplasmic reticulum, as well as intracellular membrane trafficking and distribution as primary defects underlying the HSPs, with clear relevance for other long axonopathies affecting peripheral nerves and lower motor neurons.