메뉴 건너뛰기




Volumn 46, Issue 1, 1996, Pages 4-8

Machado-Joseph disease and SCA3: the genotype meets the phenotypes

Author keywords

[No Author keywords available]

Indexed keywords

GENETICS; GENOTYPE; HUMAN; MACHADO JOSEPH DISEASE; NOTE; PHENOTYPE; SPINOCEREBELLAR DEGENERATION;

EID: 0029690663     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.46.1.4     Document Type: Editorial
Times cited : (35)

References (37)
  • 1
    • 0015412724 scopus 로고
    • Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia-a unique and partially treatable clinicopathological entity.
    • Woods BT, Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia-a unique and partially treatable clinicopathological entity. J Neurol Sci 1972;17:149-166.
    • Woods BT, Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia-a unique and partially treatable clinicopathological entity. J Neurol Sci 1972;17:149-166.
    • (1972) J Neurol Sci , vol.17 , pp. 149-166
    • Woods, B.T.1    Schaumburg, H.H.2
  • 2
    • 0015251021 scopus 로고
    • Machado disease-a hereditary ataxia in Portuguese emigrants in Massachusetts.
    • Nakano KK, Dawson DM, Spence A. Machado disease-a hereditary ataxia in Portuguese emigrants in Massachusetts. Neurology 1972;22:49-55.
    • Nakano KK, Dawson DM, Spence A. Machado disease-a hereditary ataxia in Portuguese emigrants in Massachusetts. Neurology 1972;22:49-55.
    • (1972) Neurology , vol.22 , pp. 49-55
    • Nakano, K.K.1    Dawson, D.M.2    Spence, A.3
  • 3
    • 0017117382 scopus 로고
    • Autosomal dominant striatonigral degeneration-a clinical, pathologic, and biochemical study of a new genetic disorder.
    • Rosenberg RN, Nyhan WL, Bay C, Shore P. Autosomal dominant striatonigral degeneration-a clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 1976;26:703-714.
    • (1976) Neurology , vol.26 , pp. 703-714
    • Rosenberg, R.N.1    Nyhan, W.L.2    Bay, C.3    Shore, P.4
  • 5
    • 0027356605 scopus 로고    scopus 로고
    • Sequeiros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. In: Harding AE, Deufel T, eds. Advances in neurology, vol. 61. New York: Raven Press, 1993:139-153.
    • Sequeiros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. In: Harding AE, Deufel T, eds. Advances in neurology, vol. 61. New York: Raven Press, 1993:139-153.
  • 6
    • 0028037806 scopus 로고
    • The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias.
    • Giunti P, Sweeney MG, Spadaro M, et al. The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias. Brain 1994;117:645-649.
    • (1994) Brain , vol.117 , pp. 645-649
    • Giunti, P.1    Sweeney, M.G.2    Spadaro, M.3
  • 7
    • 0028819081 scopus 로고
    • Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG) sub n expansion and early premonitory signs and symptoms.
    • Genis D, Matilla T, Volpini V, et al. Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG) sub n expansion and early premonitory signs and symptoms. Neurology 1995;45:24-30.
    • (1995) Neurology , vol.45 , pp. 24-30
    • Genis, D.1    Matilla, T.2    Volpini, V.3
  • 8
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
    • Orr HT, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.2    Banfi, S.3
  • 9
    • 0028877774 scopus 로고
    • Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.
    • Dubourg O, Durr A, Cancel G, et al. Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann Neurol 1995;37:176-180.
    • (1995) Ann Neurol , vol.37 , pp. 176-180
    • Dubourg, O.1    Durr, A.2    Cancel, G.3
  • 10
    • 0028100732 scopus 로고
    • Molecular and clinical correlations in spinocerebellar ataxia type 1: evidence for familial effects on the age at onset.
    • Ranum LPW, Chung M-Y, Banfi S, et al. Molecular and clinical correlations in spinocerebellar ataxia type 1: evidence for familial effects on the age at onset. Am J Hum Genet 1994;55:244-252.
    • (1994) Am J Hum Genet , vol.55 , pp. 244-252
    • Ranum, L.1    Chung, M.-Y.2    Banfi, S.3
  • 12
    • 0029991809 scopus 로고    scopus 로고
    • Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease.
    • Higgins JJ, Nee LE, Vasconcelos O, et al. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology 1996;46:208-213.
    • (1996) Neurology , vol.46 , pp. 208-213
    • Higgins, J.J.1    Nee, L.E.2    Vasconcelos, O.3
  • 13
    • 9344245162 scopus 로고    scopus 로고
    • Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients.
    • Silveira I, Lopes-Cendes I, Kish S, et al. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 1996;46:214-218.
    • (1996) Neurology , vol.46 , pp. 214-218
    • Silveira, I.1    Lopes-Cendes, I.2    Kish, S.3
  • 14
    • 0024997225 scopus 로고
    • Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba.
    • Orozco Diaz G, Nodarse Fleites A, Cordoves Sagaz R, Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 1990;40:1369-1375.
    • (1990) Neurology , vol.40 , pp. 1369-1375
    • Orozco Diaz, G.1    Nodarse Fleites, A.2    Cordoves Sagaz, R.3    Auburger, G.4
  • 15
    • 0028901773 scopus 로고
    • Is spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family.
    • Filla A, De Michele G, Banfi S, et al. Is spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 1995;45:793-796.
    • (1995) Neurology , vol.45 , pp. 793-796
    • Filla, A.1    De Michele, G.2    Banfi, S.3
  • 16
    • 0024422743 scopus 로고
    • Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: Clinical, neuropathological, and biochemical findings.
    • Orozco G, Estrada R, Perry TL, et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: Clinical, neuropathological, and biochemical findings. J Neurol Sci 1989;93:37-50.
    • (1989) J Neurol Sci , vol.93 , pp. 37-50
    • Orozco, G.1    Estrada, R.2    Perry, T.L.3
  • 17
    • 0027162192 scopus 로고
    • Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.
    • Gispert S, Twells R, Orozco G, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 1993;4:295-299.
    • (1993) Nat Genet , vol.4 , pp. 295-299
    • Gispert, S.1    Twells, R.2    Orozco, G.3
  • 18
    • 0029006340 scopus 로고
    • Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.
    • Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol 1995;38:68-72.
    • (1995) Ann Neurol , vol.38 , pp. 68-72
    • Matilla, T.1    McCall, A.2    Subramony, S.H.3    Zoghbi, H.Y.4
  • 19
    • 0028911758 scopus 로고
    • Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.
    • Twist EC, Casaubon LK, Ruttledge MH, et al. Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. J Med Genet 1995;32:25-31.
    • (1995) J Med Genet , vol.32 , pp. 25-31
    • Twist, E.C.1    Casaubon, L.K.2    Ruttledge, M.H.3
  • 20
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
    • Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 21
    • 0001172320 scopus 로고
    • Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred.
    • Gardner K, Alderson K, Galster B, Kaplan C, Leppert M, Ptacek L. Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred. Neurology 1994;44(suppl 2):A361.
    • (1994) Neurology , vol.44
    • Gardner, K.1    Alderson, K.2    Galster, B.3    Kaplan, C.4    Leppert, M.5    Ptacek, L.6
  • 22
    • 0028020605 scopus 로고
    • Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromo-some 11.
    • Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston Dennis M. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromo-some 11. Nat Genet 1994;8:280-284.
    • (1994) Nat Genet , vol.8 , pp. 280-284
    • Ranum, L.1    Schut, L.J.2    Lundgren, J.K.3    Orr, H.T.4    Livingston Dennis, M.5
  • 23
    • 0029048660 scopus 로고
    • Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.
    • Gouw LG, Kaplan CD, Haines JH, et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet 1995;10:89-93.
    • (1995) Nat Genet , vol.10 , pp. 89-93
    • Gouw, L.G.1    Kaplan, C.D.2    Haines, J.H.3
  • 24
    • 0029031694 scopus 로고
    • The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.
    • Benomar A, Krols L, Stevanin G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet 1995;10:84-88.
    • (1995) Nat Genet , vol.10 , pp. 84-88
    • Benomar, A.1    Krols, L.2    Stevanin, G.3
  • 25
    • 0029044667 scopus 로고
    • Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat.
    • Ikeuchi T, Koide R, Tanaka H, et al. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 1995;37:769-775.
    • (1995) Ann Neurol , vol.37 , pp. 769-775
    • Ikeuchi, T.1    Koide, R.2    Tanaka, H.3
  • 27
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.
    • Nagafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994;6:14-18.
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3
  • 28
    • 0028141691 scopus 로고
    • A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q.
    • Takiyama Y, Oyanagi S, Kawashima S, et al. A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology 1994;44:1302-1308.
    • (1994) Neurology , vol.44 , pp. 1302-1308
    • Takiyama, Y.1    Oyanagi, S.2    Kawashima, S.3
  • 29
    • 0028157908 scopus 로고
    • A third locus for autosomal dominant cerebellar ataxi type 1 maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.
    • Stevanin G, Le Guern E, Ravise N, et al. A third locus for autosomal dominant cerebellar ataxi type 1 maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 1994;54:11-20.
    • (1994) Am J Hum Genet , vol.54 , pp. 11-20
    • Stevanin, G.1    Le Guern, E.2    Ravise, N.3
  • 30
    • 0027996828 scopus 로고
    • Dynamic mutations hit double figures.
    • Willems PJ. Dynamic mutations hit double figures. Nat Genet 1994;8:213-215.
    • (1994) Nat Genet , vol.8 , pp. 213-215
    • Willems, P.J.1
  • 31
    • 0027342814 scopus 로고    scopus 로고
    • Harding AE. Clinical features and classification of inherited ataxias. In: Harding AE, Deufel T, eds. Advances in neurology, vol. 61. New York: Raven Press, 1993:1-14.
    • Harding AE. Clinical features and classification of inherited ataxias. In: Harding AE, Deufel T, eds. Advances in neurology, vol. 61. New York: Raven Press, 1993:1-14.
  • 32
    • 0028169738 scopus 로고
    • The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.
    • Burke JR, Wingfield MS, Lewis KE, et al. The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet 1994;7:521-524.
    • (1994) Nat Genet , vol.7 , pp. 521-524
    • Burke, J.R.1    Wingfield, M.S.2    Lewis, K.E.3
  • 33
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
    • Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994;6:9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 34
    • 0027261537 scopus 로고
    • Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.
    • Snell RG, MacMillan JC, Cheadle JP, et al. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 1993;4:393-397.
    • (1993) Nat Genet , vol.4 , pp. 393-397
    • Snell, R.G.1    MacMillan, J.C.2    Cheadle, J.P.3
  • 35
    • 0026496257 scopus 로고
    • Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
    • Goldfarb LG, Petersen RB, Tabaton M, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992;258:806-808.
    • (1992) Science , vol.258 , pp. 806-808
    • Goldfarb, L.G.1    Petersen, R.B.2    Tabaton, M.3
  • 36
    • 0028141728 scopus 로고
    • George-Hyslop P, Rogaeva E, Huterer J, et al. Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14.
    • St. George-Hyslop P, Rogaeva E, Huterer J, et al. Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. Am J Hum Genet 1994;55:120-125.
    • (1994) Am J Hum Genet , vol.55 , pp. 120-125
  • 37
    • 0014787658 scopus 로고
    • The olivopontocerebellar atrophies: a review.
    • Konigsmark BW, Weiner LP. The olivopontocerebellar atrophies: a review. Medicine 1970;49:227-241.
    • (1970) Medicine , vol.49 , pp. 227-241
    • Konigsmark, B.W.1    Weiner, L.P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.