Tandan R, Taylor R, Adesina A, Sharma K, Fries T, Pendlebury W
Department of Neurology, University of Vermont, Burlington.
Neurology. 1990 May;40(5):773-9. doi: 10.1212/wnl.40.5.773.
We present a kindred with a previously undescribed combination of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and mild dementia. The propositus, a 72-year-old man, had pes cavus, peripheral neuropathy, ptosis, parkinsonism, hyperreflexia, orthostatic hypotension, central hypoventilation, and mild dementia. Peripheral electrophysiologic studies showed features of an axonal neuropathy. The electroencephalogram showed intermittent 2 to 4 Hz activity symmetrically in the hemispheres. Several family members in 3 generations had pes cavus, neuropathy, ptosis, parkinsonism, and dementia although not all of the features were consistently present. Survival past the 7th decade was common. Autopsy in 2 affected members revealed the neuropathy to be axonal in type and showed mild to moderate loss of anterior horn cells in the spinal cord and pigmentary loss with gliosis in the substantia nigra. This is a unique, benign, autosomal dominant syndrome which shows complete penetrance, variable expression, and both central and peripheral nervous system involvement.
我们报告了一个家族，其患有一种此前未被描述过的神经元性夏科-马里-图斯病、上睑下垂、帕金森症和轻度痴呆的组合病症。先证者是一名72岁男性，患有高弓足、周围神经病变、上睑下垂、帕金森症、反射亢进、体位性低血压、中枢性通气不足和轻度痴呆。外周电生理研究显示为轴索性神经病变的特征。脑电图显示半球对称出现间歇性2至4赫兹活动。三代中的几名家庭成员患有高弓足、神经病变、上睑下垂、帕金森症和痴呆，尽管并非所有特征都始终存在。活到七十多岁很常见。对2名受影响成员进行的尸检显示，神经病变为轴索性，脊髓前角细胞有轻度至中度丧失，黑质有色素丧失并伴有胶质增生。这是一种独特的、良性的常染色体显性综合征，具有完全外显率、可变表达，且累及中枢和外周神经系统。
