摘要
先证者 男,35岁。2009年3月来我院就诊,3年前无诱因出现走路不稳,无力.伴言语不流利。无头痛。未呕吐,无进食饮水呛咳,无排尿用难。自述发病前身体健康,其父亲、哥哥、姐姐均有类似表现。查体:神清,智力、计势力、记忆力可,言语欠流利.肌张力正常。
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2010年第2期234-235,共2页
Chinese Journal of Medical Genetics
参考文献12
-
1谭建强,袁志刚.脊髓小脑性共济失调分子遗传学研究进展[J].医学综述,2008,14(20):3058-3060. 被引量:1
-
2Zoghbi HY. Spinocerebellar ataxias. Neurobiol Dis, 2000, 7: 523-527.
-
3van de Warrenburg B, Sinke R, Verschuuren-Bemelmans C, et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology, 2002, 12, 58: 702- 708.
-
4Craig K, Keers SM, Archibald K,et al. Molecular epidemiology of spinocerebellar ataxia type 6. Ann Neurol, 2004, 55: 752- 755.
-
5Klockgether T. Handbook of ataxia disorders. New York: Marcel Dekker Inc, 2000.56-84.
-
6Orr HT, Chung M, Banff S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet, 1993,4:221-226.
-
7Schols L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol, 2004,3 : 291-304.
-
8Taroni F, Di Donato S. Pathways to motor incoordination: the inherited ataxias. Nat Rev Neurosci, 2004,5 : 641-655.
-
9Duenas AM, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain, 2006,129 : 1357-1370.
-
10Mariotti C, Brusco A, Di Bella D, et al. Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum, 2008,7 : 184-188.
二级参考文献26
-
1谢秋幼,梁秀龄,李洵桦.脊髓小脑性共济失调的分子遗传学诊断与临床应用[J].中华医学遗传学杂志,2005,22(1):71-73. 被引量:13
-
2Harding AE. Clinical feet alatures and cla-ssification of inherited ataxias [ J]. Adv Neurol, 1993,61 : 1-14.
-
3吴江.神经病学.神经系统遗传性疾病[M].北京:人民卫生出版社,2005:319-320.
-
4Rosenberg RN. Autosomal dominant cerebellar phenotypes: the genotype has settled the issue[ J]. Neurology, 1995,45 ( 1 ) : 1-5.
-
5Le Ber I, Brice A, Durr A. New autosomal recessive cerebellar ataxias with oculomotor apraxia[ J]. Curr Neurol Neurosci Rep ,2005,5 (5) :411-417.
-
6Orr HT,Chung MY,Banff S,et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 [ J ]. Nat Genet, 1993,4 ( 3 ) : 221-226.
-
7Brusco A, Gellera C, Cagnoli C, et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families[ J]. Arch Neurol,2004,61 (5) :727-733.
-
8Sinha KK, Worth PF ,Jha DK, et al. Autosomal dominant cerebellar ataxia:SCA2 is the most frequent mutation in eastern India[ J]. J Neurol Neurosurg Psychiatry ,200d ,75 ( 3 ) :448-452.
-
9Tsai HF, Liu CS, Leu TM, et al. Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan [ J ]. Acta Neurol Scand, 2004, 109 ( 5 ) : 355 -360.
-
10Gierga K, Burk K, Bauer M, et al. Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type2 (SCA2) [ J]. Acta Neuropathol, 2005,109 ( 6 ) : 617-631.
同被引文献14
-
1谢秋幼,梁秀龄,李洵桦.我国南方汉族人脊髓小脑性共济失调不同基因亚型的频率分布[J].中华检验医学杂志,2004,27(9):555-557. 被引量:14
-
2姜晓华,叶蕾,傅毅,余慧贞,于广平,赵咏桔,宁光,李小英.遗传性脊髓小脑型共济失调一例家系SCA3基因突变研究[J].中华医学杂志,2005,85(12):848-849. 被引量:3
-
3Duenas AM,Goold R,Giunti P.Molecular pathogenesis of spinocer ebellar ataxias[J].Brain,2006,129:1357-1370.
-
4Netravathi M,Pal PK,Purushottam M,et a;.spinocerebellar ataxias types 1,2 and 3:age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths[J].J Neurol Sci,2009,277(1-2):83-86.
-
5Zoghbi HY.Spinocerebellar ataxias[J].Neurobiol Dis,2000,7:523-527.
-
6Soong BV,Paulson HL.Spinocerebellar ataxia:an update[J].Current opinion in Neurology,2007,20:438-446.
-
7Kawaguchi Y,Okamoto T,raniwakiM,el al.CAC expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1[J].Nat,Genet,1994,8:221.
-
8Pulst SM,Nechiporuk A,Nechiporuk T,et al.Moderate expansion of a normary bialletc trinucleotide repeat in spinocerebellar ataxia type 2[J].Nat Genet,1996,14:269-276.
-
9Orr HT,ChungM Y,Banfi S,et al.Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1[J].Nat Genet,1993,4:221-226.
-
10Van Alfen N,Sinke RJ,Zwarts MJ,et al.Intermediate CAG repeat lengths(53,54)for MID/SCA3,MJD are associated with an abnormal phenotype[J].Ann Neurol,2001,49:805-807.
-
1冯志颖.认识精神分裂症的早期症状[J].开卷有益(求医问药),2010(8):56-56.
-
2精神分裂症症状消失就算治愈吗[J].家庭健康(医学科普),2005(3):46-46.
-
3程东阳,曾艳,刘谨.老年性痴呆的早期发现初探[J].中华临床医学杂志,2005,6(2):97-98.
-
4亓敏,刘强,史浩.脑多发性硬化的磁敏感加权成像诊断及鉴别诊断价值[J].医学影像学杂志,2012,22(3):471-474. 被引量:6
-
5霍然.她因何怨恨哥哥[J].心理与健康,2001(1):46-47.
-
6胡智伟,邹小冬.具有帕金森样症状患者相关疾病探讨[J].脑与神经疾病杂志,2012,20(1):31-34. 被引量:7
-
7老人手抖是何病[J].江苏卫生保健(今日保健),2005(4):24-24.
-
8李芳,常超.患了脑梗死后怎么还会得脑出血[J].求医问药,2010(2):20-21.
-
9郑乾,秦利霞,谭利明,胡治平,张海南.产后子痫性脑病误诊分析[J].临床误诊误治,2015,28(5):42-46.
-
10汗思.“胖爸爸”和他的十个“儿子”(下)[J].养生月刊,2012,33(10):876-880.