Faber Ingrid, Servelhere Katiane R, Martinez Alberto R M, D'Abreu Anelyssa, Lopes-Cendes Iscia, França Marcondes C
Departamento de Neurologia, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
Departamento de Genetica Medica, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Campinas, SP, Brazil.
Arq Neuropsiquiatr. 2014 Mar;72(3):219-26. doi: 10.1590/0004-282x20130248.
Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions.
遗传性痉挛性截瘫（HSP）是一组由基因决定的疾病，其特征为下肢进行性痉挛和无力。成人起病的痉挛性截瘫明显散发的病例是常见的临床问题，且相当一部分病例可能源于遗传。HSP在临床上分为单纯型和复杂型。后者伴有广泛的其他神经和全身特征。迄今为止，已描述了多达60种基因亚型。单基因遗传的所有模式均有报道：常染色体显性遗传、常染色体隐性遗传、X连锁遗传和线粒体遗传特征。最近的研究进展表明，轴突运输异常是导致HSP中枢神经系统中长运动神经元轴突退化的关键机制。在本综述中，我们旨在阐述该领域的最新进展，重点关注有助于执业神经科医生识别和处理这些病症的关键诊断特征。
