Warner T T, Lennox G G, Janota I, Harding A E
University Department of Clinical Neurology, Institute of Neurology, London, England.
Mov Disord. 1994 May;9(3):289-96. doi: 10.1002/mds.870090302.
Dentatorubropallidoluysian atrophy (DRPLA) has been described chiefly in Japan and appears to be rare in Europe. It is of autosomal dominant inheritance. We report the first British family with DRPLA, which contains four affected individuals in two generations. The diagnosis was made at autopsy in one case. The age of onset of symptoms ranged from 15 to 38 years, and clinical features included ataxia, dementia, chorea, and dystonia; three patients had generalized seizures. The three living patients resemble those with early Huntington's disease clinically. Three main phenotypes of DRPLA have been proposed: an ataxo-choreoathetoid type, a pseudo-Huntington type, and a myoclonic epilepsy type. The variation in clinical presentation in our family demonstrates the difficulty in applying such classifications to this and other dominantly inherited disorders with phenotypic variation. DRPLA is likely to be confused with Huntington's disease in European families.
齿状核红核苍白球路易体萎缩症（DRPLA）主要在日本被描述过，在欧洲似乎很罕见。它是常染色体显性遗传。我们报告了英国首个患有DRPLA的家族，该家族两代中有四名患者。其中一例在尸检时确诊。症状出现的年龄在15岁至38岁之间，临床特征包括共济失调、痴呆、舞蹈症和肌张力障碍；三名患者有全身性癫痫发作。三名在世患者临床上类似于早期亨廷顿舞蹈症患者。已提出DRPLA的三种主要表型：共济失调 - 舞蹈徐动型、假性亨廷顿型和肌阵挛癫痫型。我们家族中临床表现的差异表明，将此类分类应用于这种以及其他具有表型变异的显性遗传疾病存在困难。在欧洲家族中，DRPLA可能会与亨廷顿舞蹈症相混淆。
