Harding A E
University Department of Clinical Neurology, Institute of Neurology, London, UK.
Baillieres Clin Neurol. 1994 Aug;3(2):259-79.
A high proportion of neurological diseases characterized by movement disorders are caused by single genes; in others, such as Parkinson's disease, there appears to be a genetic component. Gene mapping studies have made substantial progress in unravelling the aetiology of dystonias and Huntington's disease, and are underway in other disorders such as essential tremor and Gilles de la Tourette syndrome. These advances are already applicable to clinical practice, particularly in Huntington's disease where identification of the disease mutation has led to the possibility of improved diagnosis and more widespread availability of predictive testing for asymptomatic family members.
很大一部分以运动障碍为特征的神经疾病是由单基因引起的；而在其他疾病中，如帕金森病，似乎存在遗传因素。基因图谱研究在揭示肌张力障碍和亨廷顿舞蹈症的病因方面取得了重大进展，并且在诸如特发性震颤和抽动秽语综合征等其他疾病的研究也在进行中。这些进展已经应用于临床实践，特别是在亨廷顿舞蹈症中，疾病突变的识别使得改善诊断成为可能，并且为无症状家庭成员提供预测性检测的范围也更广。
