Kish S J, el-Awar M, Schut L, Leach L, Oscar-Berman M, Freedman M
Human Brain Laboratory, Clarke Institute of Psychiatry, Toronto, Ontario.
Ann Neurol. 1988 Aug;24(2):200-6. doi: 10.1002/ana.410240205.
A cerebral cortical cholinergic reduction in dominantly inherited olivopontocerebellar atrophy (OPCA) was recently described. Although the magnitude of the cholinergic reduction was similar to that observed in Alzheimer's disease (AD), none of the OPCA patients was reported to have been demented. We now describe a comprehensive neuropsychological assessment of 11 patients from one of the OPCA pedigrees which we examined biochemically. Detailed neuropsychological testing disclosed previously unrecognized deficits in verbal and nonverbal intelligence, memory, and frontal system function which were positively correlated with the severity of cerebellar ataxia. However, our OPCA patients appeared to be at most only mildly disabled by their cognitive impairment and scored within or close to the normal range on a simple mental status screening examination. This, as well as an absence of any aphasia, apraxia, or agnosia, contrasts with the profile and severity observed in advanced AD dementia, characterized by a similar cortical cholinergic deficit. This finding also suggests that cholinergic reduction may explain only part of the pathophysiology underlying the dementia of AD.
最近有研究描述了常染色体显性遗传性橄榄体脑桥小脑萎缩（OPCA）中大脑皮质胆碱能的减少。尽管胆碱能减少的程度与阿尔茨海默病（AD）中观察到的相似，但据报道，没有一例OPCA患者出现痴呆症状。我们现在描述了对来自一个OPCA家系的11名患者进行的全面神经心理学评估，我们对这些患者进行了生化检查。详细的神经心理学测试揭示了言语和非言语智力、记忆以及额叶系统功能方面以前未被认识到的缺陷，这些缺陷与小脑性共济失调的严重程度呈正相关。然而，我们的OPCA患者似乎最多只是受到轻度认知障碍的影响，在简单的精神状态筛查检查中得分在正常范围内或接近正常范围。这一点，以及没有任何失语症、失用症或失认症，与晚期AD痴呆中观察到的特征和严重程度形成对比，后者的特征是类似的皮质胆碱能缺陷。这一发现还表明，胆碱能减少可能仅解释了AD痴呆潜在病理生理学的一部分。
