Neuroacanthocytosis in Japan — Review of the Literature and Cases
Neuroacanthocytosis in Japan — Review of the Literature and Cases
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日本的神经棘细胞增多症——文献和病例回顾
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发表时间：
2008
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通讯作者：
G. Hirose
中科院分区：
文献类型：
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作者：
G. Hirose
自1974年首次报告该病以来，截至2006年底，日本共收集了71例可能的舞蹈病-棘红细胞增多症（ChAc）。这些报告进行了审查，其临床特点，并记录在日本在这一领域的研究成果。虽然这些患者的临床表型是典型的ChAc，但这些病例中的大多数在临床诊断时没有分子诊断，因此不能完全排除McLeod综合征的诊断。平均发病年龄为30.5岁（范围18-42岁），男女比例为18：7。超过90%的病例出现由口-舌-面运动障碍和舞蹈样肢体运动组成的不自主运动。下嘴唇的自残也以相同的发生率出现。在几乎所有病例中均观察到深腱反射的抑制或缺失。在40%的病例中注意到伴或不伴精神症状的认知障碍。外周血红细胞棘红程度为6 ~ 80%（平均24%）。86%的患者血清肌酸磷酸激酶活性升高。计算机断层扫描显示对称萎缩的尾状核在几乎所有的情况下检查。40%的患者有癫痫发作。传播方式以常染色体隐性为主，但有4个家系报告为显性遗传。腓肠神经活检显示慢性失神经支配伴轴索病变。肌纤维的成组萎缩也有报道，但最近的研究表明，肌膜或肌纤维的原发性疾病，
Since the first case report of this disease in 1974, a total of 71 cases of probable chorea-acanthocytosis (ChAc) were collected in Japan up to the end of 2006. These reports were reviewed for their clinical features and to document research achievements in Japan in this field. Whilst the clinical phenotype of these patients was typical of ChAc, most of these cases were diagnosed clinically without molecular diagnosis, so the diagnosis of McLeod syndrome cannot be completely excluded. The mean age of onset was 30.5 (range 18-42) years and the male:female ratio was 18:7. Involuntary movements consisting of oro-lingual-facial dyskinesias and choreiform limb movements were seen in over 90% of cases. Self-mutilation of the lower lip was also seen with the same incidence. Depression or absence of deep tendon reflexes was noted in almost all cases. Cognitive impairment with or without psychiatric symptoms was noted in 40% of cases. The degree of acanthocytosis of peripheral red blood cells varied from 6 to 80% (mean value 24%). Serum creatine phosphokinase activity was increased in 86%. Computed tomography of the brain revealed symmetrical atrophy of the caudate nuclei in almost all cases examined. Forty percent of patients had seizures. The mode of transmission was predomi- nantly autosomal recessive, but four families have been reported with apparent dominant inheritance. Sural nerve biopsy showed evidence of chronic denervation with axonopathy. Grouped atrophy of muscle fibers was also reported, but recent studies suggest a primary disorder of the muscle membrane or muscle fibers as a