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常染色体显性遗传性中央轴空病的临床表现和病理特点 被引量：2

Clinical and pathological features of autosomal dominant inherited central core disease
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摘要 目的探讨常染色体显性遗传的中央轴空病(CCD)的临床和病理特点。方法通过一个确诊的中央轴空病家系患者的临床表现和肌肉病理特点来回顾本病的临床特征,病理特点和发病机制。结果该家系患者的临床表现符合典型的CCD改变,但肌肉病理改变不是典型的中央轴空,而是以偏心轴空为主。结论常染色体显性遗传的CCD可自幼发病,表现为软婴儿,病程良性;病理上的偏心轴空提示RYR1基因突变可能不在C端热点区。 Objective To study the clinical and pathological features of autosomal dominant （AD） inherited central core disease （CCD）. Methods Three cases of definite CCD coming from one AD inherited family were studied to analyze the clinical and pathological features. Clinical manifestations, pathological features and pathogenesis were reviewed in detail. Results The clinical features of the patients in this family were consist ent with typical CCD. But the central cores in muscle biopsy were atypical. Most of cores were located in the peripheral or subsarcolemmal areas. Conclusions AD inherited CCD may present since birth, has hypotonia dur ing infancy and has a non-progressive course. Atypical cores in muscle biopsy suggest the mutation in RYRI may not in the C terminal hot spot.
作者 笪宇威 王敏 卢岩 刘璐
机构地区 首都医科大学宣武医院神经内科
出处 《卒中与神经疾病》 2009年第6期335-337,共3页 Stroke and Nervous Diseases
关键词 中央轴空病 临床表现 病理 Central core disease Clinical features Pathology
分类号 R746 [医药卫生—神经病学与精神病学]
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参考文献18

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二级参考文献13

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共引文献6

同被引文献23

  • 1殷飞,江新梅,胡静,李娜.中央轴空病2例临床及病理分析[J].中风与神经疾病杂志,2006,23(5):538-540. 被引量：2
  • 2吴士文,马维娅,于生元,沈定国,IchizO Nishino.28例中央轴空病的临床病理分析[J].中华神经医学杂志,2006,5(6):597-600. 被引量：7
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  • 4Zhou H, Junqbluth H, Sewry CA, et al. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain, 2007,130 ( 8 ) :2024-2036.
  • 5Wu S, Ibarra MC, Malicdan MC,et al. Central core disease is due to RYRI mutations in more than 90% of patients. Brain, 2006, 129(6) : 1470-1480.
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卒中与神经疾病
2009年 第6期

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