Tranchant C
Centre de compétence des maladies neurologiques génétiques rares, Service de Neurologie, Hôpital de Hautepierre, avenue Molière, 67100 Strasbourg, France.
Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S23-7. doi: 10.1016/S0035-3787(13)70056-0.
The classification and management of hereditary cerebellar ataxias have been considerably changed by advances made in the field of genetics. Given the numerous genes implicated in the disorders, genetic analysis, which alone can confirm the diagnosis, needs to be based on phenotypically precise studies. Diagnostic algorithms including both recessive and dominant forms of ataxia have been proposed. The range of disease effects has been further expanded in the light of evidence of ataxias associated with permutations of the Fragile X gene, and ataxias linked to mutations of the nuclear genes coding for structural proteins of mitochondrial DNA. In the field of therapeutics, several studies are currently ongoing for Friedreich's ataxia.
遗传学领域的进展已使遗传性小脑共济失调的分类和管理发生了相当大的变化。鉴于这些疾病涉及众多基因，仅靠基因分析才能确诊，而基因分析需要基于表型精确的研究。已经提出了包括隐性和显性共济失调形式的诊断算法。鉴于与脆性X基因排列相关的共济失调以及与编码线粒体DNA结构蛋白的核基因突变相关的共济失调的证据，疾病影响范围进一步扩大。在治疗领域，目前正在针对弗里德赖希共济失调开展多项研究。
