메뉴 건너뛰기




Volumn 51, Issue 6, 1998, Pages 1666-1671

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; FRIEDREICH ATAXIA; GENE FREQUENCY; GENE LOCUS; HUMAN; INCIDENCE; INHERITANCE; MAJOR CLINICAL STUDY; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SPINOCEREBELLAR DEGENERATION; TISSUE DISTRIBUTION;

EID: 0031647246     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.51.6.1666     Document Type: Article
Times cited : (202)

References (47)
  • 3
    • 0007949225 scopus 로고
    • The spinocerebellar degenerations
    • Zoghbi HY. The spinocerebellar degenerations. Curr Neurol 1991;11:121-144.
    • (1991) Curr Neurol , vol.11 , pp. 121-144
    • Zoghbi, H.Y.1
  • 5
    • 0017389522 scopus 로고
    • Spinocerebellar ataxia and HLA linkage: Risk prediction by HLA typing
    • Jackson JF, Currier RD, Terasaki PI, Morton NE. Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. N Engl J Med 1977;296:1138-1141.
    • (1977) N Engl J Med , vol.296 , pp. 1138-1141
    • Jackson, J.F.1    Currier, R.D.2    Terasaki, P.I.3    Morton, N.E.4
  • 6
    • 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
  • 7
    • 0027279503 scopus 로고
    • The gene for Machado-Joseph disease maps to human chromosome 14q
    • Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 1993;4:300-304.
    • (1993) Nat Genet , vol.4 , pp. 300-304
    • Takiyama, Y.1    Nishizawa, M.2    Tanaka, H.3
  • 8
    • 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
    • Abstract.
    • 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. Abstract.
    • (1994) Neurology , vol.44 , Issue.2 SUPPL.
    • Gardner, K.1    Alderson, K.2    Galster, B.3    Kaplan, C.4    Leppert, M.5    Ptacek, L.6
  • 9
    • 0028020605 scopus 로고
    • Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
    • Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994;8:280-284.
    • (1994) Nat Genet , vol.8 , pp. 280-284
    • Lpw, R.1    Schut, L.J.2    Lundgren, J.K.3    Orr, H.T.4    Livingston, D.M.5
  • 10
    • 0029031694 scopus 로고
    • The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3pl2-p21.1
    • Benomar A, Krols L, Stevanin G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3pl2-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
  • 11
    • 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
  • 12
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in thé a1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in thé a1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 13
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr HT, Chung M-y, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:211-226.
    • (1993) Nat Genet , vol.4 , pp. 211-226
    • Orr, H.T.1    M-y, C.2    Banfi, S.3
  • 14
    • 0028100732 scopus 로고
    • Molecular and clinical correlations in spinocerebellar ataxia type i (SCA1): Évidence 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 I (SCA1): évidence 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
    • Lpw, R.1    M-y, C.2    Banfi, S.3
  • 15
    • 0028229119 scopus 로고
    • Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia i
    • Jodice C, Malaspina P, Persichetti F, et al. Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I. Am J Hum Genet 1994;54:959965.
    • (1994) Am J Hum Genet , vol.54 , pp. 959965
    • Jodice, C.1    Malaspina, P.2    Persichetti, F.3
  • 16
    • 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
  • 17
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
    • Imbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14:285291.
    • (1996) Nat Genet , vol.14 , pp. 285291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3
  • 18
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • Pulst S-M, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-276.
    • (1996) Nat Genet , vol.14 , pp. 269-276
    • Pulst, S.-M.1    Nechiporuk, A.2    Nechiporuk, T.3
  • 19
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
    • Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14:277-284.
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3
  • 20
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    • David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70.
    • (1997) Nat Genet , vol.17 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3
  • 21
  • 22
    • 0020641096 scopus 로고
    • Classification of the hereditary ataxias and paraplegias
    • Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;1:1151-1155.
    • (1983) Lancet , vol.1 , pp. 1151-1155
    • Harding, A.E.1
  • 23
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427.
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3
  • 24
    • 9844222853 scopus 로고    scopus 로고
    • Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
    • Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-1780.
    • (1997) Hum Mol Genet , vol.6 , pp. 1771-1780
    • Campuzano, V.1    Montermini, L.2    Lutz, Y.3
  • 25
    • 0029134871 scopus 로고
    • Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 fami-lies with dominant, recessive, or sporadic ataxia
    • Ranum LPW, Lundgren JK, Schut LJ, et al. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 fami-lies with dominant, recessive, or sporadic ataxia. Am J Hum Genet 1995;57:603-608.
    • (1995) Am J Hum Genet , vol.57 , pp. 603-608
    • Lpw, R.1    Lundgren, J.K.2    Schut, L.J.3
  • 26
    • 0019782799 scopus 로고
    • Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
    • Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981;104: 589-620.
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 27
    • 9844263366 scopus 로고    scopus 로고
    • Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to GAG repeat expansion in the CACNA1A gene on chromosome 19p
    • Jodice C, Mantuano E, Veneziano L, et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to GAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 1997;6:1973-1978.
    • (1997) Hum Mol Genet , vol.6 , pp. 1973-1978
    • Jodice, C.1    Mantuano, E.2    Veneziano, L.3
  • 28
    • 16944366032 scopus 로고    scopus 로고
    • Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19pl3.1-pl3.2 and are strongly associated with mild GAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19pl3.1
    • Ishikawa K, Tanaka H, Saito M, et al. Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19pl3.1-pl3.2 and are strongly associated with mild GAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19pl3.1. Am J Hum Genet 1997;61:336-346.
    • (1997) Am J Hum Genet , vol.61 , pp. 336-346
    • Ishikawa, K.1    Tanaka, H.2    Saito, M.3
  • 29
    • 8544235014 scopus 로고    scopus 로고
    • SCA6 is caused by a moderate GAG expansion in the a 1A-voltage-dependent calcium channel gene
    • Riess O, Schöls L, Böttger H, et al. SCA6 is caused by a moderate GAG expansion in the a 1A-voltage-dependent calcium channel gene. Hum Mol Genet 1997;6:1289-1293.
    • (1997) Hum Mol Genet , vol.6 , pp. 1289-1293
    • Riess, O.1    Schöls, L.2    Böttger, H.3
  • 31
    • 9244225693 scopus 로고    scopus 로고
    • Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
    • Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996;39:490-499.
    • (1996) Ann Neurol , vol.39 , pp. 490-499
    • Dürr, A.1    Stevanin, G.2    Cancel, G.3
  • 32
    • 0030810204 scopus 로고    scopus 로고
    • 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
    • Leggo J, Dalton A, Morrison PJ, 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;34:982-985.
    • (1997) J Med Genet , vol.34 , pp. 982-985
    • Leggo, J.1    Dalton, A.2    Morrison, P.J.3
  • 33
    • 0030668895 scopus 로고    scopus 로고
    • The expansion of the GAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia
    • Lorenzetti D, Bohlega S, Zoghbi HY. The expansion of the GAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology 1997;49:1009-1013.
    • (1997) Neurology , vol.49 , pp. 1009-1013
    • Lorenzetti, D.1    Bohlega, S.2    Zoghbi, H.Y.3
  • 34
    • 15444348424 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 2-génotype and phenotype in German kindreds
    • Schöls L, Gispert S, Vorgerd M, et al. Spinocerebellar ataxia type 2-génotype and phenotype in German kindreds. Arch Neurol 1997;54:1073-1080.
    • (1997) Arch Neurol , vol.54 , pp. 1073-1080
    • Schöls, L.1    Gispert, S.2    Vorgerd, M.3
  • 35
    • 8244220324 scopus 로고    scopus 로고
    • Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
    • Cancel G, Dürr A, Didierjean O, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997;6:709-715.
    • (1997) Hum Mol Genet , vol.6 , pp. 709-715
    • Cancel, G.1    Dürr, A.2    Didierjean, O.3
  • 36
    • 0030944114 scopus 로고    scopus 로고
    • The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
    • Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997;60:842-850.
    • (1997) Am J Hum Genet , vol.60 , pp. 842-850
    • Geschwind, D.H.1    Perlman, S.2    Figueroa, C.P.3    Treiman, L.J.4    Pulst, S.M.5
  • 37
    • 0031963416 scopus 로고    scopus 로고
    • Expanded GAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: Effect of GAG repeat length on the clinical manifestation
    • Johansson J, Forsgren L, Sandgren O, Brice A, Holmgren G, Holmberg M. Expanded GAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of GAG repeat length on the clinical manifestation. Hum Mol Genet 1998;7:171176.
    • (1998) Hum Mol Genet , vol.7 , pp. 171176
    • Johansson, J.1    Forsgren, L.2    Sandgren, O.3    Brice, A.4    Holmgren, G.5    Holmberg, M.6
  • 38
    • 6844239536 scopus 로고    scopus 로고
    • Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by GAG triplet repeat expansion
    • Del-Favero J, Krols L, Michalik A, et al. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by GAG triplet repeat expansion. Hum Mol Genet 1998;7:177-186.
    • (1998) Hum Mol Genet , vol.7 , pp. 177-186
    • Del-Favero, J.1    Krols, L.2    Michalik, A.3
  • 39
    • 6844252925 scopus 로고    scopus 로고
    • Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission
    • Gouw GG, Castaneda MA, McKenna CK, et al. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum Mol Genet 1998;7: 525-532.
    • (1998) Hum Mol Genet , vol.7 , pp. 525-532
    • Gouw, G.G.1    Ma, C.2    McKenna, C.K.3
  • 40
    • 6844254538 scopus 로고    scopus 로고
    • Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
    • David G, Dürr A, Stevanin G, et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 1998; 7:165-170.
    • (1998) Hum Mol Genet , vol.7 , pp. 165-170
    • David, G.1    Dürr, A.2    Stevanin, G.3
  • 41
    • 0031467887 scopus 로고    scopus 로고
    • Broadened Friedreich's ataxia phenotype after gene cloning: Minimal GAA expansion causes late-onset spastic ataxia
    • Ragno M, De Michèle G, Cavalcanti F, et al. Broadened Friedreich's ataxia phenotype after gene cloning: minimal GAA expansion causes late-onset spastic ataxia. Neurology 1997;49: 1617-1620.
    • (1997) Neurology , vol.49 , pp. 1617-1620
    • Ragno, M.1    De Michèle, G.2    Cavalcanti, F.3
  • 42
    • 1842370633 scopus 로고    scopus 로고
    • Friedreich's ataxia: Revision of the phenotype according to the molecular genetics
    • Schöls L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C. Friedreich's ataxia: revision of the phenotype according to the molecular genetics. Brain 1997;120:2131-2140.
    • (1997) Brain , vol.120 , pp. 2131-2140
    • Schöls, L.1    Amoiridis, G.2    Przuntek, H.3    Frank, G.4    Epplen, J.T.5    Epplen, C.6
  • 43
    • 0030668897 scopus 로고    scopus 로고
    • Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene
    • Gellera C, Pareyson D, Castellotti B, et al. Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene. Neurology 1997;49: 1153-1155.
    • (1997) Neurology , vol.49 , pp. 1153-1155
    • Gellera, C.1    Pareyson, D.2    Castellotti, B.3
  • 44
    • 0030739437 scopus 로고    scopus 로고
    • Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations
    • Cossée M, Schmitt M, Campuzano V, et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sei USA 1997;94:7452-7457.
    • (1997) Proc Natl Acad Sei USA , vol.94 , pp. 7452-7457
    • Cossée, M.1    Schmitt, M.2    Campuzano, V.3
  • 45
    • 8544240144 scopus 로고    scopus 로고
    • The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles
    • Montermini L, Andermann E, Labuda M, et al. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 1997;6:1261-1266.
    • (1997) Hum Mol Genet , vol.6 , pp. 1261-1266
    • Montermini, L.1    Andermann, E.2    Labuda, M.3
  • 46
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
    • Chung M-y, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nat Genet 1993;5:254-258.
    • (1993) Nat Genet , vol.5 , pp. 254-258
    • M-y, C.1    Lpw, R.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5    Orr, H.T.6
  • 47
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
    • Kunst CB, Warren ST. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 1994;77:853-861.
    • (1994) Cell , vol.77 , pp. 853-861
    • Kunst, C.B.1    Warren, S.T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.