Schöls Ludger, Bauer Peter, Schmidt Thorsten, Schulte Thorsten, Riess Olaf
Department of Neurology, University of Tuebingen, Germany.
Lancet Neurol. 2004 May;3(5):291-304. doi: 10.1016/S1474-4422(04)00737-9.
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era, ataxias were some of the most poorly understood neurological disorders; the unravelling of their molecular basis enabled precise diagnosis in vivo and explained many clinical phenomena such as anticipation and variable phenotypes even within one family. However, the discovery of many ataxia genes and loci in the past decade threatens to cause more confusion than optimism among clinicians. Therefore, the provision of guidance for genetic testing according to clinical findings and frequencies of SCA subtypes in different ethnic groups is a major challenge. The identification of ataxia genes raises hope that essential pathogenetic mechanisms causing SCA will become more and more apparent. Elucidation of the pathogenesis of SCA hopefully will enable the development of rational therapies for this group of disorders, which currently can only be treated symptomatically.
常染色体显性遗传性小脑共济失调是一类遗传性神经退行性疾病，在遗传学命名中被称为脊髓小脑共济失调（SCA）。在前基因组时代，共济失调是了解最少的神经系统疾病之一；其分子基础的揭示使得能够在体内进行精确诊断，并解释了许多临床现象，如遗传早现以及即使在一个家族中也存在的可变表型。然而，在过去十年中发现的许多共济失调基因和位点，给临床医生带来的困惑可能多于乐观。因此，根据临床发现以及不同种族群体中SCA亚型的发生频率提供基因检测指导是一项重大挑战。共济失调基因的鉴定让人看到希望，即导致SCA的关键致病机制将越来越清晰。阐明SCA的发病机制有望推动针对这组疾病的合理治疗方法的开发，目前这组疾病只能进行对症治疗。
