Yajima K, Suzuki K
Acta Neuropathol. 1979 Nov;48(2):127-32. doi: 10.1007/BF00691153.
Brindled mutant mouse (MObr) is clinically closely similar to kinky hair syndrome (KHS) in humans. Hemizygous males (MObr/Y) of this mutant usually cannot survive beyond the 15th -- 16th postnatal day. However, some were found to survive into the adult life. Extensive neuronal degeneration in the cerebral cortex was a prominent neuropathological feature of MObr/Y (Yajima and Suzuki, 1979a). In the long surviving one, however, such neuronal degeneration gradually disappeared and cortical neuronal loss and axonal degeneration of the underlying white matter were the predominant neuropathological features. which are closely similar to those of KHS, in particular in those patients who survive for more than 1 year. On the basis of our observations on the brain of MObr/Y mice, we hypothesized the possible chronological events on the development of neuropathological lesions in KHS in humans.
斑驳突变小鼠（MObr）在临床上与人类的扭发综合征（KHS）极为相似。这种突变体的半合子雄性（MObr/Y）通常在出生后第15至16天就无法存活。然而，发现有些能存活至成年。大脑皮质广泛的神经元变性是MObr/Y的一个突出神经病理特征（矢岛和铃木，1979a）。然而，在长期存活的个体中，这种神经元变性逐渐消失，皮质神经元丢失和其下方白质的轴突变性成为主要的神经病理特征。这与KHS极为相似，特别是在那些存活超过1年的患者中。基于我们对MObr/Y小鼠大脑的观察，我们推测了人类KHS神经病理损伤发展过程中可能的时间顺序事件。
