FAMILIAL JUVENILE PARKINSONISM - CLINICAL AND PATHOLOGICAL-STUDY IN A FAMILY
FAMILIAL JUVENILE PARKINSONISM - CLINICAL AND PATHOLOGICAL-STUDY IN A FAMILY
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DOI：
10.1212/wnl.44.3_part_1.437
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发表时间：
1994-03-01
期刊：
影响因子：
9.9
通讯作者：
IKUTA, F
中科院分区：
文献类型：
--
作者：
TAKAHASHI, H;OHAMA, E;IKUTA, F
我们描述了一个家庭与青少年发作的帕金森氏症，改善睡眠。这个家庭的五个兄弟姐妹中有四个在很小的时候就出现了类似的帕金森症，而且父母是表兄弟姐妹。在其中一名67岁的女性同胞中，尸检时的病理变化仅限于黑质和蓝斑。SNPC显示内侧和腹外侧区明显的神经元丢失和胶质增生。在SNPC和蓝斑的其余部分中，神经元的数量减少，并且大多数神经元中的黑色素含量较低，但未检测到提示神经退行性过程的神经胶质增生或神经元游离黑色素。没有路易尸体。整个病理图片是不同的路易体帕金森氏病。
We describe a family with juvenile-onset parkinsonism, which improved following sleep. Four of the five siblings in this family developed a similar onset of parkinsonism at an early age, and the parents were first cousins. In one of the siblings, a 67-year-old woman, pathologic changes at autopsy were confined to the substantia nigra pars compacta (SNPC) and locus ceruleus. The SNPC revealed obvious neuronal loss and gliosis in the medial and ventrolateral regions. In the remainder of the SNPC and the locus ceruleus, the population of neurons was reduced and there was low melanin content in most of the neurons but no detectable gliosis or extraneuronal free melanin pigment suggestive of a neurodegenerative process. There were no Lewy bodies. The entire pathologic picture was different from that of Lewy body Parkinson's disease.