Bürk K, Klockgether T, Dichgans J
Neurologische Klinik, Universität Tübingen.
Nervenarzt. 1999 Jun;70(6):491-5. doi: 10.1007/s001150050470.
The hereditary ataxias are a heterogeneous group of inherited neurodegenerative disorders characterised by progressive ataxia that results from degeneration of the cerebellum and its afferent and efferent connections. With respect to the pathogenic mechanisms, the hereditary ataxias may be tentatively divided into three groups: (1) The recessive ataxias are induced by the functional impairment of a protein that is essential for the survival of specific neurons while the autosomal dominant ataxias are either caused by (2) mutations of genes coding for ion channels thus resulting in a channelopathy or by (3) a novel deleterious function of a extended polyglutamine sequence within the proteins encoded by the respective genes.
遗传性共济失调是一组异质性的遗传性神经退行性疾病，其特征是进行性共济失调，由小脑及其传入和传出连接的退化引起。关于致病机制，遗传性共济失调可初步分为三组：（1）隐性共济失调是由特定神经元存活所必需的蛋白质功能受损引起的，而常染色体显性共济失调要么是由（2）编码离子通道的基因突变导致通道病引起的，要么是由（3）相应基因编码的蛋白质内扩展的多聚谷氨酰胺序列的新有害功能引起的。
