Kohn H, Manowitz P, Miller M, Kling A
Department of Psychiatry, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway 08854.
Hum Genet. 1988 May;79(1):8-12. doi: 10.1007/BF00291701.
Two groups of heterozygotes, one for metachromatic leukodystrophy (MLD) and the other for Tay-Sachs disease, were given a battery of neuropsychological tests, a standard neurological examination, and an EEG. Neurological and EEG findings were unremarkable for both groups. The MLD heterozygotes showed deficits in the neuropsychological tests involving spatial or constructional components, but not in tests involving language skills. The Tay-Sachs heterozygotes showed no consistent deficit on any component of the neuropsychological tests.
两组杂合子，一组为异染性脑白质营养不良（MLD）杂合子，另一组为泰-萨克斯病杂合子，接受了一系列神经心理学测试、标准神经系统检查和脑电图检查。两组的神经系统和脑电图检查结果均无异常。MLD杂合子在涉及空间或构图成分的神经心理学测试中表现出缺陷，但在涉及语言技能的测试中没有。泰-萨克斯病杂合子在神经心理学测试的任何成分上均未表现出一致的缺陷。
