Rosenberg R N
Department of Neurology, University of Texas Southwestern Medical Center at Dallas 75235-9036, USA.
Clin Neurosci. 1995;3(1):1-4.
The inherited ataxias can now be classified on the basis of genotype rather than phenotype. Clinical expression of the various disorders overlap one another, making a diagnostic classification based on phenotype inaccurate in many instances. A genomic classification as outlined here has provided order and clarity in this group of disorders previously classified on the basis of clinical features. It is expected that in the near future the abnormal gene products for these ataxias, the ataxins, will be identified and provide molecular insights for effective therapies.
遗传性共济失调现在可以根据基因型而非表型进行分类。各种疾病的临床表现相互重叠，使得基于表型的诊断分类在许多情况下不准确。此处概述的基因组分类为这组以前根据临床特征分类的疾病提供了秩序和清晰度。预计在不久的将来，这些共济失调的异常基因产物——共济失调蛋白将被识别出来，并为有效治疗提供分子层面的见解。
