Vieregge P, Ziemens G, Freudenberg M, Piosinski A, Muysers A, Schulze B
Medizinische Universität zu Lübeck, Lübeck Klinik für Neurologie, FRG.
J Neurol Neurosurg Psychiatry. 1991 Jan;54(1):34-8. doi: 10.1136/jnnp.54.1.34.
Extrapyramidal, frontal release, and other neurological signs were studied in 54 demented and non-demented patients with Down's syndrome (DS). Fourteen patients were demented and five showed extrapyramidal signs, mainly of the rigid-hypokinetic spectrum and similar to Parkinsonian features in advanced Alzheimer's disease (AD). None of the non-demented patients had Parkinsonian signs. The mean age of the demented DS patients with extrapyramidal signs was significantly higher than that of the patients without. Frontal release signs were present in demented and non-demented patients. A questionnaire showed no increase in either the proportion of early- or senile-onset dementia or Parkinsonism among first- and second-degree relatives of DS patients. Parkinsonian signs appear to be present at a lower frequency in DS than in advanced AD. A speculative hypothesis about a gene dosage effect of Cu/Zn-superoxide dismutase in preventing toxic radical formation in the substantia nigra of DS patients is presented.
对54例患有唐氏综合征（DS）的痴呆和非痴呆患者的锥体外系、额叶释放及其他神经学体征进行了研究。14例患者患有痴呆，其中5例出现锥体外系体征，主要为强直-运动减少型，类似于晚期阿尔茨海默病（AD）的帕金森样特征。非痴呆患者均无帕金森体征。有锥体外系体征的痴呆DS患者的平均年龄显著高于无该体征的患者。额叶释放体征在痴呆和非痴呆患者中均有出现。一份调查问卷显示，DS患者的一级和二级亲属中早发性或老年性痴呆或帕金森病的比例均未增加。DS患者中帕金森体征的出现频率似乎低于晚期AD患者。本文提出了一个关于铜/锌超氧化物歧化酶基因剂量效应在预防DS患者黑质中有毒自由基形成方面的推测性假说。
