Subramony S H
Department of Neurology, University of Mississippi School of Medicine, Jackson 39216-4505, USA.
J Child Neurol. 1995 Sep;10(5):353-62. doi: 10.1177/088307389501000503.
The hereditary ataxias are a group of complex genetic disorders the understanding of which is undergoing a revolution because of advances in molecular genetics. Within the last few years, at least seven different gene loci have been found to be responsible for these syndromes, and the search is on for additional loci that undoubtedly exist. This review summarizes the clinical features of the various hereditary ataxias with known gene loci, as well as others that are now defined on a clinical basis. It also deals with some of the imaging and neuropharmacologic advances that have been made in this group of disorders.
遗传性共济失调是一组复杂的遗传疾病，由于分子遗传学的进展，对其的认识正在经历一场变革。在过去几年中，至少发现了七个不同的基因位点与这些综合征有关，并且正在寻找无疑存在的其他位点。这篇综述总结了具有已知基因位点的各种遗传性共济失调以及目前基于临床定义的其他遗传性共济失调的临床特征。它还涉及了在这组疾病中取得的一些影像学和神经药理学进展。
