Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

被引：404

作者：

Salinas, Sara ^{[2
]}

Proukakis, Christos ^{[1
]}

Crosby, Andrew ^{[3
]}

Warner, Thomas T. ^{[1
]}

机构：

[1] UCL, Inst Neurol, Dept Clin Neurosci, London NW3 2PF, England

[2] Neuropathol Lab, London, England

[3] St George Hosp, Sch Med, Dept Med Genet, London, England

来源：

LANCET NEUROLOGY | 2008年 / 7卷 / 12期

关键词：

D O I：

10.1016/S1474-4422(08)70258-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative disorders in which the most severely affected neurons are those of the spinal cord. These disorders are characterised clinically by progressive spasticity and weakness of the lower limbs, and pathologically by retrograde axonal degeneration of the corticospinal tracts and posterior columns. In recent years, genetic studies have identified key cellular functions that are vital for the maintenance of axonal homoeostasis in HSP. Here, we describe the clinical and diagnostic features of the various forms of HSP. We also discuss the genes that have been identified and the emerging pathogenic mechanisms.

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页码：1127 / 1138

页数：12

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