MacMillan J C, Davies P, Harper P S
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
J Neurol Neurosurg Psychiatry. 1995 Apr;58(4):496-8. doi: 10.1136/jnnp.58.4.496.
The availability of mutation analysis for the CAG repeat expansion associated with Huntington's disease has prompted clinicians in various specialties to request testing of samples from patients displaying clinical features that might be attributable to Huntington's disease. A series of 38 cases presenting with clinical features thought possibly to be due to Huntington's disease were analysed prospectively. In 53% of such cases presenting initially with chorea and 62.5% with psychiatric symptoms an expansion was identified, a considerable lower proportion than found in previous series where the diagnosis was considered definite on clinical and genetic grounds. Mutation analysis is likely to be of considerable value in the diagnosis of Huntington's disease, especially where the family history in previous generations is inadequate or apparently negative.
与亨廷顿舞蹈病相关的CAG重复序列扩增突变分析的可用性，促使各专业的临床医生要求对表现出可能归因于亨廷顿舞蹈病临床特征的患者样本进行检测。对一系列38例表现出可能由亨廷顿舞蹈病引起的临床特征的病例进行了前瞻性分析。在最初表现为舞蹈症的此类病例中，53%检测到扩增；在最初表现为精神症状的病例中，62.5%检测到扩增，这一比例明显低于先前系列研究中基于临床和遗传学依据确诊的比例。突变分析在亨廷顿舞蹈病的诊断中可能具有相当大的价值，尤其是在前几代家族史不充分或明显为阴性的情况下。
