Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Annu Rev Neurosci. 2012;35:25-47. doi: 10.1146/annurev-neuro-062111-150400. Epub 2012 Apr 20.
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.
人类的随意运动由皮质脊髓运动系统控制，这是一个包含皮质脊髓束和运动神经元的长中枢神经系统通路。遗传性痉挛性截瘫（HSP）是一组遗传性神经系统疾病，具有很大的遗传多样性，其特征是皮质脊髓束的远端轴突病呈长度依赖性，导致下肢痉挛和无力。一系列研究表明，细胞器官，特别是内质网的形态改变，以及细胞内膜运输和分布的改变，是 HSP 的主要缺陷，这与影响周围神经和运动神经元的其他长轴突病有明显的相关性。
