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脊髓小脑性共济失调3型/Machado-Joseph病ICARS与SARA评分相关因素分析(英文) 被引量：2

Related factors of ICARS and SARA scores on spinocerebellar ataxia type 3/Machado-Joseph disease
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摘要 目的:探讨国际协作共济失调评估量表(ICARS)与共济失调等级量表(SARA)评估脊髓小脑性共济失调3型/M achado-Joseph病患者的相关因素。方法:应用ICARS与SARA对126例基因检测明确诊断为脊髓小脑性共济失调3型患者进行评估,分析ICARS评分、SARA评分与发病年龄、病程、CAG重复次数的相关性。结果:ICARS总评分(Y1)、SARA总评分(Y2)与病程(X2)呈正相关(r=0.586,P<0.05;r=0.643,P<0.05),回归方程分别为Y1=13.072+2.388X2(F=68.874,P<0.05),Y2=4.403+0.961X2(F=87.254,P<0.05)。ICARS总评分、SARA总评分与年龄的比值分别与CAG重复次数呈正相关(r=0.328,P<0.05;r=0.335,P<0.05)。ICARS各项评分、SARA各项评分与病程均呈正相关(r=0.257～0.589,P<0.05;r=0.432～0.623,P<0.05)。ICARS各项评分、SARA各项评分与年龄比值分别与CAG重复次数呈正相关(r=0.263～0.403,P<0.05;r=0.189～0.366,P<0.05)。ICARS总评分、SARA总评分均随着病情严重程度增加而增加。结论:ICARS与SARA评分量表均能够有效地反映共济失调患者的病情严重程度,研究者可根据实际需要选用合适的量表。 Objective To investigate the related factors of international cooperative ataxia rating scale（ICARS） and scale for the assessment and rating of ataxia scores（SARA） in patients with spinocerebellar ataxia type 3/Machado-Joseph disease.Methods A total of 126 SCA3/MJD patients were assessed by ICARS and SARA.The relation between ICARS or SARA scores and age of onset,disease duration and CAG repeat size was analyzed.Results Either the total ICARS or the total SARA score was positively related with the disease duration（r=0.586,P0.05;r=0.643,P0.05）.Simple linear regression equations were： Y1（total ICARS score）=13.072＋2.388 X2（disease duration）（F=68.874,P0.05）;Y2（total SARA score）=4.403＋ 0.961 X2（disease duration）（F=87.254,P0.05）.Either age adjusted the total ICARS score or age adjusted the total SARA score was positively related with CAG repeat size（r=0.328,P0.05;r=0.335,P0.05）.Both the ICARS subscores and the SARA subscores were positively related with the disease duration（r=0.257-0.589,P0.05;r=0.432-0.623,P0.05）.Both age adjusted ICARS subscores and age adjusted SARA subscores were positively related with CAG repeat size（r=0.263-0.403,P0.05;r=0.189-0.366,P0.05）.Analysis of variance showed that the total ICARS score and the total SARA score increased with the disease stage.Conclusion ICARS and SARA are both reliable and effective scales in assessing the severity of ataxia in patients with SCA3/MJD,and researchers can choose the most suitable scale according to specific requirement.
作者 周洁 雷立芳 廖鑫鑫 王俊岭 江泓 唐北沙 沈璐
机构地区 中南大学湘雅医院神经内科 中南大学神经退行性疾病研究中心
出处 《中南大学学报（医学版）》 CAS CSCD 北大核心 2011年第6期498-503,共6页 Journal of Central South University ：Medical Science
基金 supported by the National Natural Science Foundation of China(30971034,30971585,30871354)
关键词 脊髓小脑性共济失调3型 马查多-约瑟夫病 国际协作共济失调评估量表 共济失调等级量表 临床评估 spinocerebellar ataxia type 3 Machado-Joseph disease international cooperative ataxia rating scale（ICARS） scale for the assessment and rating of ataxia（SARA） clinical assessment
分类号 R744.7 [医药卫生—神经病学与精神病学]
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参考文献22

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同被引文献25

  • 1谢秋幼,李洵桦,梁秀龄.脊髓小脑性共济失调6型的分子遗传学诊断及临床特点[J].临床神经病学杂志,2004,17(5):321-323. 被引量：5
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  • 3Tsoi H, Yu AC, Chen ZS, et al. A novel missense muta- tion in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia [ J ]. Med Genet, 2014, 51(9):590-595.
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  • 6Fan HC, Ho LI, Chi CS, et al. Polyglutamine (PolyQ) diseases: genetics to treatments [ J]. Cell Transplant, 2014, 23(4-5) :441-458.
  • 7Subramony SH, Fratkin JD, Manyam BV, et al. Domi- nantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus [J]. Mov Disord, 1996, 11(2) :174-180.
  • 8Garcia-Planells J, Cuesta A, Vilchez JJ, et al. Genetics of the SCA6 gene in a large family segregating an auto- somal dominant "pure" cerebellar ataxia [ J ]. J Med Genet, 1999, 36(2) :148-151.
  • 9Restituito S, Thompson RM, Eliet J, et al. The polyglu- tamine expansion in spinocerebellar ataxia type 6 causes a beta subunitspecific enhanced activation of P/Q-type cal- cium channels in Xenopus oocytes [ J ]. J Neurosci, 2000, 20 ( 17 ) : 6394-6403.
  • 10Li L, Saegusa H, Tanabe T. Deficit of heat shock tran- scription factor 1-heat shock 70 kDa protein 1A axis de- termines the cell death vulnerability in a model of spinoc- erebellar ataxia type 6 [ J ]. Genes Cells, 2009, 14 ( 11 ) : 1253-1269.

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中南大学学报（医学版）
2011年 第6期

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