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Volumn 70, Issue 6, 2013, Pages 764-771

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32

(17)  Serrano Munuera, Carmen a,g   Corral Juan, Marc b   Stevanin, Giovanni i   San Nicolás, Hector c   Roig, Carles d,g   Corral, Jordi c,g   Campos, Berta c   De Jorge, Laura c   Morcillo Suárez, Carlos d,f   Navarro, Arcadi e,f,h   Forlani, Sylvie i   Durr, Alexandra i   Kulisevsky, Jaime g   Brice, Alexis i   Sánchez, Ivelisse b,g   Volpini, Victor c   Matilla Duenãs, Antoni b,g  


Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 84878791176     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.2311     Document Type: Article
Times cited : (43)

References (40)
  • 1
    • 0027342814 scopus 로고
    • Clinical features and classification of inherited ataxias
    • Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol. 1993;61:1-14.
    • (1993) Adv Neurol , vol.61 , pp. 1-14
    • Harding, A.E.1
  • 2
    • 0033760073 scopus 로고    scopus 로고
    • Spinocerebellar ataxias
    • Zoghbi HY. Spinocerebellar ataxias. Neurobiol Dis. 2000;7(5):523-527.
    • (2000) Neurobiol Dis , vol.7 , Issue.5 , pp. 523-527
    • Zoghbi, H.Y.1
  • 3
    • 33745088678 scopus 로고    scopus 로고
    • Molecular pathogenesis of spinocerebellar ataxias
    • DOI 10.1093/brain/awl081
    • Matilla-Dueñas A, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006;129(pt 6):1357-1370. (Pubitemid 43999370)
    • (2006) Brain , vol.129 , Issue.6 , pp. 1357-1370
    • Duenas, A.M.1    Goold, R.2    Giunti, P.3
  • 4
    • 77955636420 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond
    • Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010;9(9):885-894.
    • (2010) Lancet Neurol , vol.9 , Issue.9 , pp. 885-894
    • Durr, A.1
  • 5
    • 79960790152 scopus 로고    scopus 로고
    • Update on degenerative ataxias
    • Klockgether T. Update on degenerative ataxias. Curr Opin Neurol. 2011;24(4):339-345.
    • (2011) Curr Opin Neurol , vol.24 , Issue.4 , pp. 339-345
    • Klockgether, T.1
  • 6
    • 84870464151 scopus 로고    scopus 로고
    • The ever expanding spinocerebellar ataxias
    • Matilla-Dueñas A. The ever expanding spinocerebellar ataxias. Cerebellum. 2012;11(4):821-827.
    • (2012) Cerebellum , vol.11 , Issue.4 , pp. 821-827
    • Matilla-Dueñas, A.1
  • 7
    • 84864713198 scopus 로고    scopus 로고
    • Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3)
    • Scherzed W, Brunt ER, Heinsen H, et al. Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3). Cerebellum. 2012;11(3):749-760.
    • (2012) Cerebellum , vol.11 , Issue.3 , pp. 749-760
    • Scherzed, W.1    Brunt, E.R.2    Heinsen, H.3
  • 8
    • 79961145156 scopus 로고    scopus 로고
    • Neuropathology of degenerative ataxias
    • Fratkin JD, Vig PJ. Neuropathology of degenerative ataxias. Handb Clin Neurol. 2012;103:111-125.
    • (2012) Handb Clin Neurol , vol.103 , pp. 111-125
    • Fratkin, J.D.1    Vig, P.J.2
  • 9
    • 84864683551 scopus 로고    scopus 로고
    • Ataxia rating scales - Psychometric profiles, natural history and their application in clinical trials
    • Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group
    • Saute JA, Donis KC, Serrano-Munuera C, et al Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group. Ataxia rating scales - psychometric profiles, natural history and their application in clinical trials. Cerebellum. 2012;11(2):488-504.
    • (2012) Cerebellum , vol.11 , Issue.2 , pp. 488-504
    • Saute, J.A.1    Donis, K.C.2    Serrano-Munuera, C.3
  • 11
    • 77649103303 scopus 로고    scopus 로고
    • Responsiveness of different rating instruments in spinocerebellar ataxia patients
    • Schmitz-Hübsch T, Fimmers R, Rakowicz M, et al. Responsiveness of different rating instruments in spinocerebellar ataxia patients. Neurology. 2010;74(8):678-684.
    • (2010) Neurology , vol.74 , Issue.8 , pp. 678-684
    • Schmitz-Hübsch, T.1    Fimmers, R.2    Rakowicz, M.3
  • 12
    • 79953277710 scopus 로고    scopus 로고
    • Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias
    • Chan E, Charles P, Ribai P, et al. Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias. Mov Disord. 2011;26(3):534-538.
    • (2011) Mov Disord , vol.26 , Issue.3 , pp. 534-538
    • Chan, E.1    Charles, P.2    Ribai, P.3
  • 13
    • 0027430722 scopus 로고
    • Oculomotor abnormalities in motor neuron disease
    • Marti-Fàbregas J, Roig C. Oculomotor abnormalities in motor neuron disease. J Neurol. 1993;240(8):475-478. (Pubitemid 23283735)
    • (1993) Journal of Neurology , vol.240 , Issue.8 , pp. 475-478
    • Marti-Fabregas, J.1    Roig, C.2
  • 14
    • 0036338150 scopus 로고    scopus 로고
    • Merlin - Rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet. 2002;30(1):97-101.
    • (2002) Nat Genet , vol.30 , Issue.1 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 17
    • 18544381909 scopus 로고    scopus 로고
    • A high-resolution recombination map of the human genome
    • Kong A, Gudbjartsson DF, Sainz J, et al. A high-resolution recombination map of the human genome. Nat Genet. 2002;31(3):241-247.
    • (2002) Nat Genet , vol.31 , Issue.3 , pp. 241-247
    • Kong, A.1    Gudbjartsson, D.F.2    Sainz, J.3
  • 19
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a mendelian disorder
    • Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010;42(1):30-35.
    • (2010) Nat Genet , vol.42 , Issue.1 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3
  • 20
    • 0032835166 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type I: Oculomotor abnormalities in families with SCA1, SCA2, and SCA3
    • DOI 10.1007/s004150050456
    • Bürk K, Fetter M, Abele M, et al. Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. J Neurol. 1999;246(9):789-797. (Pubitemid 29467154)
    • (1999) Journal of Neurology , vol.246 , Issue.9 , pp. 789-797
    • Burk, K.1    Fetter, M.2    Abele, M.3    Laccone, F.4    Brice, A.5    Dichgans, J.6    Klockgether, T.7
  • 21
    • 79952142034 scopus 로고    scopus 로고
    • Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias
    • Federighi P, Cevenini G, Dotti MT, et al. Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. Brain. 2011;134(Pt 3):879-891.
    • (2011) Brain , vol.134 , Issue.PART 3 , pp. 879-891
    • Federighi, P.1    Cevenini, G.2    Dotti, M.T.3
  • 25
    • 42249095826 scopus 로고    scopus 로고
    • Impaired eye movements in presymptomatic spinocerebellar ataxia type 6
    • DOI 10.1001/archneur.65.4.530
    • Christova P, Anderson JH, Gomez CM. Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. Arch Neurol. 2008;65(4):530-536. (Pubitemid 351549964)
    • (2008) Archives of Neurology , vol.65 , Issue.4 , pp. 530-536
    • Christova, P.1    Anderson, J.H.2    Gomez, C.M.3
  • 26
    • 0034992392 scopus 로고    scopus 로고
    • Slowing of voluntary and involuntary saccades: An early sign in spinocerebellar ataxia type 7
    • DOI 10.1002/ana.1059
    • Oh AK, Jacobson KM, Jen JC, Baloh RW. Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7. Ann Neurol. 2001;49(6):801-804. (Pubitemid 32530249)
    • (2001) Annals of Neurology , vol.49 , Issue.6 , pp. 801-804
    • Oh, A.K.1    Jacobson, K.M.2    Jen, J.C.3    Baloh, R.W.4
  • 27
    • 0033816249 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 8: Clinical features in a large family
    • Day JW, Schut LJ, Moseley ML, Durand AC, Ranum LP. Spinocerebellar ataxia type 8: clinical features in a large family. Neurology. 2000;55(5):649-657.
    • (2000) Neurology , vol.55 , Issue.5 , pp. 649-657
    • Day, J.W.1    Schut, L.J.2    Moseley, M.L.3    Durand, A.C.4    Ranum, L.P.5
  • 29
    • 0031018491 scopus 로고    scopus 로고
    • Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1
    • DOI 10.1007/s004150050058
    • Klostermann W, Zühlke C, Heide W, Kömpf D, Wessel K. Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1. J Neurol. 1997;244(2):105-111. (Pubitemid 27057956)
    • (1997) Journal of Neurology , vol.244 , Issue.2 , pp. 105-111
    • Klostermann, W.1    Zuhlke, C.2    Heide, W.3    Kompf, D.4    Wessel, K.5
  • 31
    • 14844297397 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6
    • DOI 10.1002/ana.20371
    • Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann Neurol. 2005;57(3):349-354. (Pubitemid 40343956)
    • (2005) Annals of Neurology , vol.57 , Issue.3 , pp. 349-354
    • Yu, G.-Y.1    Howell, M.J.2    Roller, M.J.3    Xie, T.-D.4    Gomez, C.M.5
  • 32
    • 0031865677 scopus 로고    scopus 로고
    • Oculomotor testing in the differential diagnosis of degenerative ataxic disorders
    • DOI 10.1001/archneur.55.7.949
    • Wessel K, Moschner C, Wandinger KP, Kömpf D, Heide W. Oculomotor testing in the differential diagnosis of degenerative ataxic disorders. Arch Neurol. 1998;55(7):949-956. (Pubitemid 28335113)
    • (1998) Archives of Neurology , vol.55 , Issue.7 , pp. 949-956
    • Wessel, K.1    Moschner, C.2    Wandinger, K.-P.3    Kompf, D.4    Heide, W.5
  • 34
    • 0020317159 scopus 로고
    • The primate oculomotor system. II. Premotor system. A synthesis of anatomical, physiological, and clinical data
    • Henn V, Hepp K, Büttner-Ennever JA. The primate oculomotor system: II, premotor system: a synthesis of anatomical, physiological, and clinical data. Hum Neurobiol. 1982;1(2):87-95. (Pubitemid 12053291)
    • (1982) Human Neurobiology , vol.1 , Issue.2 , pp. 87-95
    • Henn, V.1    Buttner-Ennever, J.A.2    Hepp, K.3
  • 35
    • 0022634317 scopus 로고
    • Eye movement abnormalities in a family with cerebellar vermian atrophy
    • Furman JM, Baloh RW, Yee RD. Eye movement abnormalities in a family with cerebellar vermian atrophy. Acta Otolaryngol. 1986;101(5-6):371-377. (Pubitemid 16117335)
    • (1986) Acta Oto-Laryngologica , vol.101 , Issue.5-6 , pp. 371-377
    • Furman, J.M.R.1    Baloh, R.W.2    Yee, R.D.3
  • 36
    • 0032769946 scopus 로고    scopus 로고
    • Vertical Purkinje cells of the monkey floccular lobe: Simple-spike activity during pursuit and passive whole body rotation
    • Fukushima K, Fukushima J, Kaneko CR, Fuchs AF. Vertical Purkinje cells of the monkey floccular lobe: simple-spike activity during pursuit and passive whole body rotation. J Neurophysiol. 1999;82(2):787-803. (Pubitemid 29387854)
    • (1999) Journal of Neurophysiology , vol.82 , Issue.2 , pp. 787-803
    • Fukushima, K.1    Fukushima, J.2    Kaneko, C.R.S.3    Fuchs, A.F.4
  • 37
    • 0036820509 scopus 로고    scopus 로고
    • Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
    • DOI 10.1007/s00439-002-0782-7
    • Verbeek DS, Schelhaas JH, Ippel EF, Beemer FA, Pearson PL, Sinke RJ. Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum Genet. 2002;111(4-5):388-393. (Pubitemid 36075065)
    • (2002) Human Genetics , vol.111 , Issue.4-5 , pp. 388-393
    • Verbreek, D.S.1    Schelhaas, J.H.2    Ippel, E.F.3    Beemer, F.A.4    Pearson, P.L.5    Sinke, R.J.6
  • 38
    • 0037677603 scopus 로고    scopus 로고
    • A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23
    • Chung MY, Lu YC, Cheng NC, Soong BW. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain. 2003;126(Pt 6):1293-1299.
    • (2003) Brain , vol.126 , Issue.PART 6 , pp. 1293-1299
    • Chung, M.Y.1    Lu, Y.C.2    Cheng, N.C.3    Soong, B.W.4
  • 39
    • 84871998158 scopus 로고    scopus 로고
    • Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19
    • Duarri A, Jezierska J, Fokkens M, et al. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol. 2012;72(6):870-880.
    • (2012) Ann Neurol , vol.72 , Issue.6 , pp. 870-880
    • Duarri, A.1    Jezierska, J.2    Fokkens, M.3
  • 40
    • 84871989725 scopus 로고    scopus 로고
    • Mutations in KCND3 cause spinocerebellar ataxia type 22
    • Lee YC, Durr A, Majczenko K, et al. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol. 2012;72(6):859-869.
    • (2012) Ann Neurol , vol.72 , Issue.6 , pp. 859-869
    • Lee, Y.C.1    Durr, A.2    Majczenko, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.