Sakai Kenji, Ishida Chiho, Morinaga Akiyoshi, Takahashi Kazuya, Yamada Masahito
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Japan.
Department of Neurology, National Hospital Organization Iou Hospital, Kanazawa, Japan.
Cerebellum. 2015 Dec;14(6):707-10. doi: 10.1007/s12311-015-0678-4.
We described a 63-year-old Japanese female with genetically confirmed Huntington's disease who showed unusual pathological findings in the cerebellum. This case exhibited typical neuropathological features as Huntington's disease, including severe degeneration of the neostriatum and widespread occurrence of ubiquitin and expanded polyglutamine-positive neuronal intranuclear and intracytoplasmic inclusions. The cerebellum was macroscopically unremarkable; however, somatic sprouts and halo-like amorphous materials of Purkinje cell with a large amount of torpedoes were noteworthy. Furthermore, the Purkinje cells were found to have granular cytoplasmic inclusions. Somatic sprouting is a form of degenerated Purkinje cell exhibited in several specific conditions. Although this finding usually appeared in developmental brains, several neurodegenerative disorders, including Menkes kinky hair disease, familial spinocerebellar ataxia, acute encephalopathy linked to familial hemiplegic migraine, and several other conditions, have been reported showing sprouting from the soma of Purkinje cell. We propose that Huntington's disease is another degenerative condition associated with these distinct neuropathological findings of Purkinje cell. Abnormally accumulated huntingtin protein in the cytoplasm could be related to the development of these structures.
我们描述了一位63岁经基因确诊为亨廷顿舞蹈症的日本女性，其小脑出现了异常的病理表现。该病例展现出了典型的亨廷顿舞蹈症神经病理特征，包括新纹状体的严重退化以及泛素和多聚谷氨酰胺扩增阳性神经元核内及胞质内包涵体的广泛出现。小脑在宏观上并无明显异常；然而，值得注意的是出现了体细胞芽生以及含有大量鱼雷样结构的浦肯野细胞的晕状无定形物质。此外，还发现浦肯野细胞具有颗粒状胞质包涵体。体细胞芽生是浦肯野细胞在几种特定情况下出现的一种退化形式。尽管这一发现通常出现在发育中的大脑中，但已有报道称，包括门克斯卷发综合征、家族性脊髓小脑共济失调、与家族性偏瘫性偏头痛相关的急性脑病以及其他几种疾病在内的多种神经退行性疾病，也会出现浦肯野细胞体的芽生现象。我们认为亨廷顿舞蹈症是另一种与浦肯野细胞这些独特神经病理表现相关的退行性疾病。细胞质中异常积累的亨廷顿蛋白可能与这些结构的形成有关。
