Laboratory of Genetics and Molecular Medicine, Instituto de Biomedicina de Valencia, CSIC, and CIBER de Enfermedades Raras (CIBERER), Valencia, Spain.
Adv Exp Med Biol. 2009;652:263-96. doi: 10.1007/978-90-481-2813-6_18.
Inherited ataxias and hereditary spastic paraplegias are two heterogeneous groups of neurodegenerative disorders with a wide spectrum of clinical symptoms and also, with a remarkable number of involved loci/genes. Inherited ataxias are clinically characterized by progressive degeneration of cerebellum and spinocerebellar tracts of the spinal cord associated with a variable combination of signs of central and peripheral nervous system. Hereditary spastic paraplegias (HSPs) are characterized by slowly progressive spasticity and weakness of lower limbs, due to pyramidal tract dysfunction. The classification of these diseases is extremely difficult because of overlapping symptoms among different clinical forms. For this reason, the genetic classification for both inherited ataxias and HSP forms, based on the causative loci/genes has reached general acceptance. The aim of this review is to summarize the genetics and the pathogenic mechanisms involved in these two groups of neurodegenerative spinocerebellar disorders.
遗传性共济失调和遗传性痉挛性截瘫是两组具有广泛临床症状的神经退行性疾病，涉及许多不同的基因/基因座。遗传性共济失调的临床特征是小脑和脊髓的小脑和脊髓束进行性退化，伴有中枢和周围神经系统的各种体征的不同组合。遗传性痉挛性截瘫（HSP）的特征是由于锥体束功能障碍导致下肢进行性痉挛和无力。由于不同临床形式之间存在重叠症状，因此这些疾病的分类非常困难。出于这个原因，基于致病基因/基因座的遗传性共济失调和 HSP 形式的遗传分类已被广泛接受。本综述的目的是总结这两组神经退行性小脑脊髓疾病的遗传学和发病机制。
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