Sachdev H S, Forno L S, Kane C A
Neurology. 1982 Feb;32(2):192-5. doi: 10.1212/wnl.32.2.192.
We studied Joseph disease clinically and pathologically in two patients of Portuguese ancestry, but from different families. We found involvement of spinocerebellar tracts, Clarke's column, anterior horn cells, motor cranial nerve nuclei, and substantia nigra. One patient also had pallidosubthalamic and pontocerebellar degeneration with normal inferior olives. The second patient, a Joseph family member, had nerve cell loss in the subthalamic nucleus. The neostriatum appeared normal in both cases. The pigmented nuclei contained a few Lewy bodies. The almost identical pathology in two families support the hypothesis that Joseph disease is a genetic entity.
我们对两名葡萄牙裔但来自不同家族的患者进行了约瑟夫病的临床和病理研究。我们发现脊髓小脑束、克拉克柱、前角细胞、运动性颅神经核以及黑质均受累。一名患者还伴有苍白球-底丘脑和脑桥小脑变性，下橄榄核正常。第二名患者是约瑟夫家族成员，其底丘脑核有神经细胞丢失。在这两个病例中，新纹状体看起来正常。色素沉着的核内有一些路易小体。两个家族中几乎相同的病理表现支持了约瑟夫病是一种遗传疾病的假说。
