Sharma P, Savy L, Britton J, Taylor R, Howick A, Patton M
Division of Clinical Neuroscience, St George's Hospital Medical School, University of London, UK.
J Neurol Neurosurg Psychiatry. 1996 Feb;60(2):206-8. doi: 10.1136/jnnp.60.2.206.
Huntington's disease is a progressive neurodegenerative disease in which the molecular abnormality has recently been described. Before the availability of this molecular marker diagnosis depended on clinical findings, supported in some instances by neuroimaging using CT or MRI. The imaging modalities may show atrophy of the heads of caudate nuclei in affected people. An attempt was made to validate these imaging findings using the molecular test as "gold standard." Retrospective analysis of cranial CT in 16 patients with Huntington's disease and 16 age and sex matched controls was performed. There was a highly significant difference in caudate head size (P < 0.00001) between patients with Huntington's disease and control subjects. However, the sensitivity of diagnosis based on radiological examination alone was only 87.5% in this study. Thus the sensitivity of CT is insufficient to justify its routine use in the investigation of suspected Huntington's disease, unless genetic tests are negative and other diagnoses need to be excluded.
亨廷顿舞蹈症是一种进行性神经退行性疾病，其分子异常情况最近已被描述。在这种分子标记物可用之前，诊断依赖于临床发现，某些情况下还需借助CT或MRI神经成像来辅助。成像方式可能显示患病者尾状核头部萎缩。有人尝试以分子检测作为“金标准”来验证这些成像结果。对16例亨廷顿舞蹈症患者以及16名年龄和性别匹配的对照者的头颅CT进行了回顾性分析。亨廷顿舞蹈症患者与对照者之间尾状核头部大小存在高度显著差异（P < 0.00001）。然而，在本研究中，仅基于放射学检查的诊断敏感性仅为87.5%。因此，CT的敏感性不足以证明其在疑似亨廷顿舞蹈症调查中的常规使用合理性，除非基因检测为阴性且需要排除其他诊断。
