The chromosome 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA): A newly identified degenerative ataxia in Japan showing peculiar morphological changes of the Purkinje cell
The chromosome 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA): A newly identified degenerative ataxia in Japan showing peculiar morphological changes of the Purkinje cell
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DOI：
10.1111/j.1440-1789.2010.01142.x
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发表时间：
2010-10-01
期刊：
影响因子：
2.3
通讯作者：
Mizusawa, Hidehiro
中科院分区：
文献类型：
--
作者：
Ishikawa, Kinya;Mizusawa, Hidehiro
染色体16q22.1连锁的常染色体显性小脑共济失调（16 q-ADCA）是日本常见的脊髓小脑共济失调（SCA）的一种形式。其临床特征为迟发性单纯小脑性共济失调。16 q-ADCA的神经病理学特征是浦肯野细胞变性，伴有嗜酸性结构，我们称之为“晕状无定形物质”。通过免疫组织化学和电子显微镜，该结构迄今已被发现包含两个组成部分：体芽从浦肯野细胞和突触前终端的未知来源。据我们所知，浦肯野细胞这种特殊的形态学变化以前还没有被描述过。进一步的研究可能揭示SCA独特的病理过程。
The chromosome 16q22.1-linked autosomal-dominant cerebellar ataxia (16q-ADCA) is a form of spinocerebellar ataxia (SCA) common in Japan. It is clinically characterized by late-onset purely cerebellar ataxia. The neuropathologic hallmark of 16q-ADCA is degeneration of Purkinje cells accompanied by an eosinophilic structure which we named "halo-like amorphous materials". By immunohistochemistry and electron microscopy, the structure has been so far found to contain two components: the somatic sprouts from the Purkinje cells and presynaptic terminals of unknown origin. As far as we are aware, this peculiar morphological change of Purkinje cells has not been previously described. Further investigations may disclose unique pathological processes in SCA.