메뉴 건너뛰기




Volumn 81, Issue 11, 2010, Pages 1229-1232

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 1; ATAXIN 3; ATAXIN 7; PROTEIN; SPINOCEREBELLAR ATAXIA 11 PROTEIN; SPINOCEREBELLAR ATAXIA 17 PROTEIN; SPINOCEREBELLAR ATAXIA 2 PROTEIN; SPINOCEREBELLAR ATAXIA 6 PROTEIN; UNCLASSIFIED DRUG;

EID: 78649565715     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2009.202150     Document Type: Article
Times cited : (44)

References (22)
  • 1
    • 68649121647 scopus 로고    scopus 로고
    • Emerging pathogenic pathways in the spinocerebellar ataxias
    • Carlson KM, Andresen JM, Orr HT. Emerging pathogenic pathways in the spinocerebellar ataxias. Curr Opin Genet Dev 2009;19:247-53.
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 247-253
    • Carlson, K.M.1    Andresen, J.M.2    Orr, H.T.3
  • 2
    • 71849083831 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 31 is associated with 'inserted' penta-nucleotide repeats containing (TGGAA)(n)
    • Sato N, Amino T, Kobayashi K, et al. Spinocerebellar ataxia type 31 is associated with 'inserted' penta-nucleotide repeats containing (TGGAA)(n). Am J Hum Genet 2009;85:544-57.
    • (2009) Am J Hum Genet , vol.85 , pp. 544-557
    • Sato, N.1    Amino, T.2    Kobayashi, K.3
  • 3
    • 11144356369 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
    • Schols L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3:291-304.
    • (2004) Lancet Neurol , vol.3 , pp. 291-304
    • Schols, L.1    Bauer, P.2    Schmidt, T.3
  • 4
    • 0037385006 scopus 로고    scopus 로고
    • Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
    • Chen DH, Brkanac Z, Verlinde CL, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003;72:839-49.
    • (2003) Am J Hum Genet , vol.72 , pp. 839-849
    • Chen, D.H.1    Brkanac, Z.2    Verlinde, C.L.3
  • 5
    • 31744441984 scopus 로고    scopus 로고
    • Spectrin mutations cause spinocerebellar ataxia type 5
    • Ikeda Y, Dick KA, Weatherspoon MR, et al. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet 2006;38:184-90.
    • (2006) Nat Genet , vol.38 , pp. 184-190
    • Ikeda, Y.1    Dick, K.A.2    Weatherspoon, M.R.3
  • 6
    • 33645421783 scopus 로고    scopus 로고
    • Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
    • Waters MF, Minassian NA, Stevanin G, et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet 2006;38:447-51.
    • (2006) Nat Genet , vol.38 , pp. 447-451
    • Waters, M.F.1    Minassian, N.A.2    Stevanin, G.3
  • 7
    • 54749151920 scopus 로고    scopus 로고
    • Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families
    • Hara K, Shiga A, Nozaki H, et al. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology 2008;71:547-51.
    • (2008) Neurology , vol.71 , pp. 547-551
    • Hara, K.1    Shiga, A.2    Nozaki, H.3
  • 8
    • 57149108745 scopus 로고    scopus 로고
    • A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20
    • Knight MA, Hernandez D, Diede SJ, et al. A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Hum Mol Genet 2008;17:3847-53.
    • (2008) Hum Mol Genet , vol.17 , pp. 3847-3853
    • Knight, M.A.1    Hernandez, D.2    Diede, S.J.3
  • 9
    • 0037219826 scopus 로고    scopus 로고
    • A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia
    • [corrected]
    • van Swieten JC, Brusse E, de Graaf BM, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet 2003;72:191-9.
    • (2003) Am J Hum Genet , vol.72 , pp. 191-199
    • Van Swieten, J.C.1    Brusse, E.2    De Graaf, B.M.3
  • 10
    • 78649590369 scopus 로고    scopus 로고
    • AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role of the m-AAA AFG3L2 homocomlex in the cerebellum
    • (Abstract)
    • Di Bella D, Lazzaro F, Brusco A, et al. AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role of the m-AAA AFG3L2 homocomlex in the cerebellum. The American Society of Human Genetics 58th Annual Meeting Philadelphia, 216 (Abstract).
    • The American Society of Human Genetics 58th Annual Meeting Philadelphia , pp. 216
    • Di Bella, D.1    Lazzaro, F.2    Brusco, A.3
  • 11
    • 0037066111 scopus 로고    scopus 로고
    • Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis
    • van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, et al. Spinocerebellar ataxias in The Netherlands: prevalence and age at onset variance analysis. Neurology 2002;58:702-8.
    • (2002) Neurology , vol.58 , pp. 702-708
    • Van De Warrenburg, B.P.1    Sinke, R.J.2    Verschuuren-Bemelmans, C.C.3
  • 12
    • 2642589007 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?
    • Schols L, Amoiridis G, Buttner T, et al. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol 1997;42:924-32.
    • (1997) Ann Neurol , vol.42 , pp. 924-932
    • Schols, L.1    Amoiridis, G.2    Buttner, T.3
  • 13
    • 4644349432 scopus 로고    scopus 로고
    • Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians
    • Stevanin G, Durr A, Dussert C, et al. Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians. Neurology 2004;63:936.
    • (2004) Neurology , vol.63 , pp. 936
    • Stevanin, G.1    Durr, A.2    Dussert, C.3
  • 14
    • 36549023424 scopus 로고    scopus 로고
    • Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11
    • Houlden H, Johnson J, Gardner-Thorpe C, et al. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet 2007;39:1434-6.
    • (2007) Nat Genet , vol.39 , pp. 1434-1436
    • Houlden, H.1    Johnson, J.2    Gardner-Thorpe, C.3
  • 15
    • 76449084313 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 11 in the Chinese Han population
    • Xu Q, Li X, Wang J, et al. Spinocerebellar ataxia type 11 in the Chinese Han population. Neurol Sci 2010;31:107-9.
    • (2010) Neurol Sci , vol.31 , pp. 107-109
    • Xu, Q.1    Li, X.2    Wang, J.3
  • 16
    • 73449131955 scopus 로고    scopus 로고
    • Missense exchanges in the TTBK2 gene mutated in SCA11
    • Edener U, Kurth I, Meiner A, et al. Missense exchanges in the TTBK2 gene mutated in SCA11. J Neurol 2009;256:1856-9.
    • (2009) J Neurol , vol.256 , pp. 1856-1859
    • Edener, U.1    Kurth, I.2    Meiner, A.3
  • 17
    • 27644586218 scopus 로고    scopus 로고
    • New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14
    • Klebe S, Durr A, Rentschler A, et al. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol 2005;58:720-9.
    • (2005) Ann Neurol , vol.58 , pp. 720-729
    • Klebe, S.1    Durr, A.2    Rentschler, A.3
  • 18
    • 34249016915 scopus 로고    scopus 로고
    • The (-16C→T) substitution in the PLEKHG4 gene is not present among European ADCA patients
    • Cagnoli C, Brussino A, Di Gregorio E, et al. The (-16C→T) substitution in the PLEKHG4 gene is not present among European ADCA patients. Mov Disord 2007;22:752-3.
    • (2007) Mov Disord , vol.22 , pp. 752-753
    • Cagnoli, C.1    Brussino, A.2    Di Gregorio, E.3
  • 19
    • 0019902437 scopus 로고
    • The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth.'
    • Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth.' Brain 1982;105:1-28.
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.E.1
  • 20
    • 33845696394 scopus 로고    scopus 로고
    • High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
    • Beetz C, Nygren AO, Schickel J, et al. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 2006;67:1926-30.
    • (2006) Neurology , vol.67 , pp. 1926-1930
    • Beetz, C.1    Nygren, A.O.2    Schickel, J.3
  • 21
    • 77955606850 scopus 로고    scopus 로고
    • Conventional mutations are associated with a different phenotype than polyglutamine expansions in spinocerebellar ataxias
    • [abstract]
    • Durr A, Stevanin G, Forlani S, et al. Conventional mutations are associated with a different phenotype than polyglutamine expansions in spinocerebellar ataxias [abstract]. Eur J Hum Genet 2009;17:335.
    • (2009) Eur J Hum Genet , vol.17 , pp. 335
    • Durr, A.1    Stevanin, G.2    Forlani, S.3
  • 22
    • 2442441507 scopus 로고    scopus 로고
    • Maximum entropy modelling of short sequence motifs with applications to RNA splicing signals
    • Yeo G, Burge CB. Maximum entropy modelling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 2004;11:377-94.
    • (2004) J Comput Biol , vol.11 , pp. 377-394
    • Yeo, G.1    Burge, C.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.