遗传性脊髓小脑性共济失调一家系报道
摘要
本文报道一个遗传性脊髓小脑性共济失调(spinocerebellar ataxia.SCA)家系,观察了该家系患者的临床症状、体征及辅助检查结果,并对其中2例患者做了基因检测。我们通过复习相关文献,对该类疾病的发病机制、分类、临床特征等进行了总结以及讨论。
出处
《中风与神经疾病杂志》
CAS
CSCD
北大核心
2007年第3期367-368,共2页
Journal of Apoplexy and Nervous Diseases
参考文献11
-
1Manto MU.The wide spectrum of spinocerebellar ataxias (SCAs)[J].Cerebellum,2005,4(1):2-6.
-
2Koeppen AH.The pathogenesis of spinocerebellar ataxia[J].Cerebellum,2005,4 (1):62-73.
-
3Ludger S,Peter B,Thorsten S,et al.Autosomal dominant cerebellar ataxias:clinical features,genetics,and pathogenesis[J].Lancet Neurol,2004,3:291-304.
-
4Jiang H,Tang B,Xia K,et al.Spinocerebellar ataxia type 6 in China's Mainland:molecular and clinical features in four families[J].Journal of the Neurological Sciences,2005,236(1-2):25-9.
-
5Fukutake T,Kamitsukasa I,Arai K,et al.A patient homozygousfor the SCA6gene with retinitis pigmentosa[J].Clin Genet,2002,61(5):375-9.
-
6Tang BS,Liu CY,Shen LU,et al.Frequency of SCA1,SCA2,SCA3/MJD,SCA6,SCA7,and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds[J].Arch Neurol,2000,57:5402-544.
-
7Ikuchi Y,Ogawa M,Shigetoh H,et al.A case with posterior column ataxia associated with cerebellar ataxia and sensory neuropathy[J].Rinsho Shinkeigaku-Clinical Neurology,1999,39(9):944-7.
-
8Giuffrida S,Saponara R,Restivo DA,et al.Supratentorial atrophy in spinocerebellar ataxia type2:MRI study of 20 patients[J].J Neurol,1999,246:383-88.
-
9Lockgether T,Skalej M,Wedekind D,et al.Autosomal dominant cerebellar ataxia type Ⅰ.MRIbased volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1,2and 3[J].Brain,1998,121:1687-93.
-
10Urata Y,Kawakami H,Yamaguchi S,et al.Characteristic magnetic resonance imaging findings inspinocerebellar ataxia 6[J].Arch Neurol,1998,55:1348-52.
-
1刘翠春.双相情感障碍家系一例报道[J].现代实用医学,2011,23(11):1314-1315.
-
2姜群群,唐荣华.亨廷顿病诊断与治疗(附一家系报道)[J].卒中与神经疾病,2015,22(2):87-90. 被引量:1
-
3胡泉生,吴青平.常染色体隐性遗传小脑性共济失调一家系报道[J].中国优生与遗传杂志,2010,18(9):123-123.
-
4刘坤梅,丁宛琼.早发家族阿尔兹海默病1个家系报道[J].职业卫生与病伤,2002,17(4):327-327.
-
5史树贵,廖平,潘登,李露斯.肌萎缩侧索硬化一家系报道[J].第三军医大学学报,2003,25(3):273-274. 被引量:8
-
6周莉,郭兰,郭文利,徐严明.一个偏头痛家系7例[J].医学综述,2010,16(17).
-
7刘艳华,韩杰.1例脑白质病变家系报道(附影像学资料)[J].中国临床神经科学,2010,18(6):647-649. 被引量:2
-
8郭劲松,金延方,李滨.MR在遗传性脊髓小脑共济失调中的应用(附一家系报道)[J].临床放射学杂志,2008,27(6):761-765. 被引量:2
-
9胡俊,陈康宁,史树贵,范文辉,许雪青.家族性肌萎缩性侧索硬化症一家系报道[J].第三军医大学学报,2011,33(11):1109-1109. 被引量:1
-
10李瑾,李海宁,戢福云.1例遗传性脊髓小脑性共济失调6型患者的基因诊断[J].解放军医学杂志,2011,36(12):1372-1373. 被引量:2