Bateman D, Boughey A M, Scaravilli F, Marsden C D, Harding A E
University Department of Clinical Neurology, Institute of Neurology, London, UK.
Ann Neurol. 1992 Mar;31(3):293-8. doi: 10.1002/ana.410310311.
We reviewed 49 patients in whom a diagnosis of Huntington's disease (HD) seemed possible on clinical grounds, but who gave no history of definitely affected relatives. In 32 with the typical clinical features of HD (progressive chorea and dementia, postural instability, abnormal initiation of saccadic eye movements), the diagnosis was confirmed in 7 patients who had had autopsies, affected relatives were found in 5 others, and HD remained probable in a further 13 who were reexamined. In the 17 with a less typical clinical picture, a diagnosis of HD appeared most likely in 2; other causes for chorea such as cerebrovascular disease, neuroacanthocytosis, recrudescence of Sydenham's chorea, and drug-induced tardive dyskinesia could be invoked in the remainder. We conclude that the likelihood of HD in a patient with the typical clinical features of this disorder but no history of affected relatives is at least 75%, which for practical purposes implies a risk to their children hardly less than in familial HD. The most plausible explanations for seemingly sporadic patients with HD are nonpaternity and mild, late-onset disease that is overlooked by other family members.
我们回顾了49例患者，这些患者基于临床情况似乎有可能被诊断为亨廷顿舞蹈病（HD），但他们均无明确的亲属患病史。在32例具有HD典型临床特征（进行性舞蹈症和痴呆、姿势不稳、眼球扫视运动起始异常）的患者中，7例经尸检确诊，另有5例发现有患病亲属，还有13例经复查后仍很可能患有HD。在17例临床症状不太典型的患者中，2例最有可能被诊断为HD；其余患者可归因于其他导致舞蹈症的病因，如脑血管疾病、神经棘红细胞增多症、Sydenham舞蹈症复发以及药物性迟发性运动障碍。我们得出结论，具有这种疾病典型临床特征但无亲属患病史的患者患HD的可能性至少为75%，实际上这意味着他们子女患病的风险几乎不亚于家族性HD。对于看似散发的HD患者，最合理的解释是非父系血缘关系以及病情轻微、发病较晚而被其他家庭成员忽视。
