메뉴 건너뛰기




Volumn 126, Issue 5, 2007, Pages 465-470

SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia syndromes in southern India

Author keywords

Genetic markers; Prevalence; Spinocerebellar ataxia

Indexed keywords

ATAXIN 1; ATAXIN 2; ATAXIN 3; NUCLEIC ACID BINDING PROTEIN; ATAXIN-1; ATXN3 PROTEIN, HUMAN; NERVE PROTEIN; NUCLEAR PROTEIN; REPRESSOR PROTEIN; SCA2 PROTEIN; UNCLASSIFIED DRUG;

EID: 43049162920     PISSN: 09715916     EISSN: 09715916     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (31)

References (33)
  • 2
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996; 14: 269-76.
    • (1996) Nat Genet , vol.14 , pp. 269-276
    • Pulst, S.M.1    Nechiporuk, A.2    Nechiporuk, T.3    Gispert, S.4    Chen, X.N.5    Lopes-Cendes, I.6
  • 3
    • 24044449657 scopus 로고    scopus 로고
    • Genotype/phenotype correlation in a SCA1 family: Anticipation without CAG expansion
    • Bauer PO, Matoska V, Zumrova A, Boday A, Doi H, Marikova T, et al. Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion. J Appl Genet 2005; 46: 325-8.
    • (2005) J Appl Genet , vol.46 , pp. 325-328
    • Bauer, P.O.1    Matoska, V.2    Zumrova, A.3    Boday, A.4    Doi, H.5    Marikova, T.6
  • 4
    • 0000834705 scopus 로고
    • An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia
    • Holmes G. An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia. Brain 1907; 30: 545-67.
    • (1907) Brain , vol.30 , pp. 545-567
    • Holmes, G.1
  • 5
    • 0020641096 scopus 로고
    • Classification of the hereditary ataxias and paraplegias
    • Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983; 1: 1151-5.
    • (1983) Lancet , vol.1 , pp. 1151-1155
    • Harding, A.E.1
  • 6
    • 43449127633 scopus 로고    scopus 로고
    • Available from:, accessed on June 15, 2006
    • Hereditary ataxias: dominant. Available from: http://www.neuro.wustl.edu/neuromuscular/ataxia/domatax.html, accessed on June 15, 2006.
    • Hereditary ataxias: Dominant
  • 9
    • 14044276904 scopus 로고    scopus 로고
    • The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population
    • Juvonen V, Hietala M, Kairisto V, Savontaus ML. The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population. Acta Neurol Scand 2005; 111: 154-62.
    • (2005) Acta Neurol Scand , vol.111 , pp. 154-162
    • Juvonen, V.1    Hietala, M.2    Kairisto, V.3    Savontaus, M.L.4
  • 10
    • 0030810204 scopus 로고    scopus 로고
    • Leggo J, Dalton A, Morrison PJ, Dodge A, Connarty M, Kotze MJ, et al. Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. J Med Genet 1997; 34: 982-5.
    • Leggo J, Dalton A, Morrison PJ, Dodge A, Connarty M, Kotze MJ, et al. Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. J Med Genet 1997; 34: 982-5.
  • 12
    • 0031797677 scopus 로고    scopus 로고
    • A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis
    • Wadia N, Pang J, Desai J, Mankodi A, Desai M, Chamberlain S. A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis. Brain 1998; 121: 2341--55.
    • (1998) Brain , vol.121 , pp. 2341-2355
    • Wadia, N.1    Pang, J.2    Desai, J.3    Mankodi, A.4    Desai, M.5    Chamberlain, S.6
  • 15
    • 0033394072 scopus 로고    scopus 로고
    • Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): A computed tomographic study
    • Pal PK, Jayakumar PN, Taly AB, Nagaraja D, Rao S. Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): a computed tomographic study. Neurol India 1999; 47: 276-81.
    • (1999) Neurol India , vol.47 , pp. 276-281
    • Pal, P.K.1    Jayakumar, P.N.2    Taly, A.B.3    Nagaraja, D.4    Rao, S.5
  • 16
    • 0034061759 scopus 로고    scopus 로고
    • Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: High frequency of SCA2 and evidence for a common founder mutation
    • Saleem Q, Choudhry S, Mukerji M, Bashyam L, Padma MV, Chakravarthy A, et al. Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum Genet 2000; 106: 179-87.
    • (2000) Hum Genet , vol.106 , pp. 179-187
    • Saleem, Q.1    Choudhry, S.2    Mukerji, M.3    Bashyam, L.4    Padma, M.V.5    Chakravarthy, A.6
  • 17
    • 0033934458 scopus 로고    scopus 로고
    • Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India
    • Basu P, Chattopadhyay B, Gangopadhaya PK, Mukherjee SC, Sinha KK; Das SK, et al. Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India. Hum Genet 2000; 106: 597-604.
    • (2000) Hum Genet , vol.106 , pp. 597-604
    • Basu, P.1    Chattopadhyay, B.2    Gangopadhaya, P.K.3    Mukherjee, S.C.4    Sinha, K.K.5    Das, S.K.6
  • 18
    • 0036193734 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias in ethnic Pengalees in West Bengal - an eastern Indian State
    • Chakravarty A, Mukherjee SC. Autosomal dominant cerebellar ataxias in ethnic Pengalees in West Bengal - an eastern Indian State. Acta Neurol Scand 2002; 105: 202-8.
    • (2002) Acta Neurol Scand , vol.105 , pp. 202-208
    • Chakravarty, A.1    Mukherjee, S.C.2
  • 19
    • 33744726564 scopus 로고    scopus 로고
    • Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms
    • Mittal U, Sharma S, Chopra R, Dheeraj K, Pal PK, Srivastava AK, et al. Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms. Hum Genet 2005; 118: 107-14.
    • (2005) Hum Genet , vol.118 , pp. 107-114
    • Mittal, U.1    Sharma, S.2    Chopra, R.3    Dheeraj, K.4    Pal, P.K.5    Srivastava, A.K.6
  • 20
    • 0030939011 scopus 로고    scopus 로고
    • International Cooperative Ataxia Rating Scale for Pharmacological Assessment of the Cerebellar Syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology
    • Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, et al. International Cooperative Ataxia Rating Scale for Pharmacological Assessment of the Cerebellar Syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci 1997; 145: 205-11.
    • (1997) J Neurol Sci , vol.145 , pp. 205-211
    • Trouillas, P.1    Takayanagi, T.2    Hallett, M.3    Currier, R.D.4    Subramony, S.H.5    Wessel, K.6
  • 21
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 23
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994; 8: 221-8.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3    Aizawa, M.4    Inoue, M.5    Katayama, S.6
  • 24
    • 0033042856 scopus 로고    scopus 로고
    • The effect of CAT trinucleotide Interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1)
    • Matsuyama Z, Izumi Y, Kameyama M, Kawakami H, Nakamura S. The effect of CAT trinucleotide Interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1). J Med Genet 1999; 36: 546-8.
    • (1999) J Med Genet , vol.36 , pp. 546-548
    • Matsuyama, Z.1    Izumi, Y.2    Kameyama, M.3    Kawakami, H.4    Nakamura, S.5
  • 25
    • 16844383114 scopus 로고    scopus 로고
    • Founder haplotype for Machado-Joseph disease in the Indian population: Novel insights from history and polymorphism studies
    • Mittal U, Srivastava AK, Jain S, Jain S, Mukerji M. Founder haplotype for Machado-Joseph disease in the Indian population: Novel insights from history and polymorphism studies. Arch Neurol 2005; 62: 637-40.
    • (2005) Arch Neurol , vol.62 , pp. 637-640
    • Mittal, U.1    Srivastava, A.K.2    Jain, S.3    Jain, S.4    Mukerji, M.5
  • 26
    • 0032231668 scopus 로고    scopus 로고
    • Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations
    • Takano H, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet 1998; 63: 1060-6.
    • (1998) Am J Hum Genet , vol.63 , pp. 1060-1066
    • Takano, H.1    Cancel, G.2    Ikeuchi, T.3    Lorenzetti, D.4    Mawad, R.5    Stevanin, G.6
  • 28
    • 0035004822 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 1 in China: Molecular analysis and genotype-phenotype correlation in 5 families
    • Zhou YX, Qiao WH, Gu WH, Xie H, Tang BS, Zhou LS, et al. Spinocerebellar ataxia type 1 in China: Molecular analysis and genotype-phenotype correlation in 5 families. Arch Neurol 2001; 58: 789-94.
    • (2001) Arch Neurol , vol.58 , pp. 789-794
    • Zhou, Y.X.1    Qiao, W.H.2    Gu, W.H.3    Xie, H.4    Tang, B.S.5    Zhou, L.S.6
  • 29
    • 0032727078 scopus 로고    scopus 로고
    • A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin
    • Pang J, Allotey R, Wadia N, Sasaki H, Bindoff L, Chamberlain S. A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin. Eur J Hum Genet 1999; 7: 841-5.
    • (1999) Eur J Hum Genet , vol.7 , pp. 841-845
    • Pang, J.1    Allotey, R.2    Wadia, N.3    Sasaki, H.4    Bindoff, L.5    Chamberlain, S.6
  • 30
    • 0036765066 scopus 로고    scopus 로고
    • Subramony SH, Hernandez D, Adam A, Smith-Jefferson S, Hussey J, Gwinn-Hardy K, et al. A. Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Mov Disord 2002; 17: 1068-71.
    • Subramony SH, Hernandez D, Adam A, Smith-Jefferson S, Hussey J, Gwinn-Hardy K, et al. A. Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Mov Disord 2002; 17: 1068-71.
  • 31
    • 0346099507 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar ataxias: An Asian perspective
    • Tan EK. Autosomal dominant spinocerebellar ataxias: an Asian perspective. Can J Neurol Sci 2003; 30: 361-7.
    • (2003) Can J Neurol Sci , vol.30 , pp. 361-367
    • Tan, E.K.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.