Delineation of the motor disorder of Lesch-Nyhan disease
Delineation of the motor disorder of Lesch-Nyhan disease
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DOI：
10.1093/brain/awl056
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发表时间：
2006-05-01
期刊：
影响因子：
14.5
通讯作者：
Reich, SG
中科院分区：
文献类型：
--
作者：
Jinnah, HA;Visser, JE;Reich, SG
莱-尼二氏病（LND）是由嘌呤补救酶次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）缺乏引起的。受影响的个体表现出尿酸的过度产生，沿着特征性神经行为综合征，包括精神发育迟滞、复发性自伤行为和运动残疾。先前的研究涉及相对较少的患者，对运动障碍的性质提供了不同的结论。目前的研究包括一项多中心国际前瞻性研究的结果，该研究在迄今为止研究的最大患者队列中进行。共有44例患者，年龄范围为2 - 38岁，表现出特征性运动综合征，涉及重度动作肌张力障碍叠加基线肌张力减退。虽然有些病人也表现出其他锥体外系或锥体束体征，但这些体征总是不如肌张力障碍突出。将这些结果与122份既往报告（共包括254例患者）的综合审查进行比较。在文献中提供了不同的观察结果的解释，沿着的LND运动障碍如何涉及到目前的理解，其病理生理学涉及基底神经节的总结。
Lesch-Nyhan disease (LND) is caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Affected individuals exhibit over-production of uric acid, along with a characteristic neurobehavioural syndrome that includes mental retardation, recurrent self-injurious behaviour and motor disability. Prior studies involving relatively small numbers of patients have provided different conclusions on the nature of the motor disorder. The current study includes the results of a multi-centre international prospective study of the motor disorder in the largest cohort of patients studied to date. A total of 44 patients ranging from 2 to 38 years presented a characteristic motor syndrome that involved severe action dystonia superimposed on baseline hypotonia. Although some patients also displayed other extrapyramidal or pyramidal signs, these were always less prominent than dystonia. These results are compared with a comprehensive review of 122 prior reports that included a total of 254 patients. Explanations for the differing observations available in the literature are provided, along with a summary of how the motor disorder of LND relates to current understanding of its pathophysiology involving the basal ganglia.