Fujita N, Tabe H, Shimohata T, Makino K, Nagai H
Department of Neurology, Nagaoka Red Cross Hospital.
Rinsho Shinkeigaku. 1998 Jun;38(6):516-9.
A 44-year-old Japanese man was diagnosed as having late adult-onset dentatorubral-pallidoluysian atrophy (DRPLA), whose CAG repeats in the DRPLA gene were 60 and 15. He developed gait disturbance, limb ataxia, pyramidal tract signs, dementia, and psychiatric symptoms including character changes within a few years of the above diagnosis. His T 2-weighted brain MRI showed symmetric high-signal lesions in the cerebral white matter and brain stem, in addition to cerebellar, brain stem, and cerebral cortical atrophy. Since the results of RI cisternography indicated that he manifested the clinical features of normal pressure hydrocephalus (NPH), V-P shunt operation was done. In a week after the operation, his gait disturbance, pyramidal tract signs, dementia and psychiatric symptoms were remarkably improved. White matter lesions have been thought to be concomitant with late adult-onset DRPLA patients, but some of these patients may have characteristics of NPH pathophysiology.
一名44岁的日本男性被诊断为患有迟发性成人起病的齿状核红核苍白球路易体萎缩症（DRPLA），其DRPLA基因中的CAG重复序列分别为60和15。在上述诊断后的几年内，他出现了步态障碍、肢体共济失调、锥体束征、痴呆以及包括性格改变在内的精神症状。他的脑部T2加权磁共振成像显示，除了小脑、脑干和大脑皮质萎缩外，脑白质和脑干还有对称的高信号病变。由于放射性脑池造影结果表明他表现出正常压力脑积水（NPH）的临床特征，因此进行了脑室-腹腔分流术。术后一周，他的步态障碍、锥体束征、痴呆和精神症状明显改善。脑白质病变一直被认为与迟发性成人起病的DRPLA患者有关，但其中一些患者可能具有NPH病理生理学特征。
