中国Joseph病二例尸检观察

The pathology of Joseph′s disease in a Chinese family: a report of two autopsy cases

通过二例尸检首次确立了中国黄氏家系所发生Ｊｏｓｅｐｈ病的病理变化。二例的主要病变均位于大脑的苍白球和ｌｕｙｓ体，小脑的齿状核，脑干颅神经运动核，中脑黑质和红核。局部表现为神经细胞脱失、变性和胶质细胞增生。此外，脊髓前角和Ｃｌａｒｋｅ核神经元严重脱失，脊髓小脑前后束重度脱髓鞘，周围神经退变及脱髓鞘伴神经原性肌萎缩。说明中国Ｊｏｓｅｐｈ病的病理变化和欧美及日本报道相似。

his is the first pathology report on Joseph′s disease in China, based on autopsies of 2 members ofthe Huang family The main pathological changes were chiefly located in the central nervous system in-cluding globus pallida and Luy′s body, cerebellar dentate nucleus,cranial nerve motor nuclei of brainstem, substantia nigra and red nuclei,and also there were severe loss of neurons in the anterior horn andClarke′s nuclei;severe demyelinization of cerebellospinal tract and degeneration with demyelinization ofthe peripheral nerves accompanied by neurogenic skeletal muscular atrophy. It is concluded that thepathologic characteristics were similar to those found in Europe, United States and Japan。