메뉴 건너뛰기




Volumn 21, Issue 6, 2010, Pages 447-453

Ophthalmologic features of the common spinocerebellar ataxias

Author keywords

autosomal dominant cerebellar ataxia; olivopontocerebellar atrophy; progressive ataxia syndromes; SCA; spinocerebellar ataxia

Indexed keywords

GLUTAMINE; POLYGLUTAMINE;

EID: 78049246333     PISSN: 10408738     EISSN: None     Source Type: Journal    
DOI: 10.1097/ICU.0b013e32833eaf71     Document Type: Review
Times cited : (25)

References (37)
  • 1
    • 0020614428 scopus 로고
    • Primary position vertical nystagmus and cerebellar ataxia
    • Kattah JC, Kolsky MP, Guy J, O'Doherty D. Primary position vertical nystagmus and cerebellar ataxia. Arch Neurol 1983; 40:310-314.
    • (1983) Arch Neurol , vol.40 , pp. 310-314
    • Kattah, J.C.1    Kolsky, M.P.2    Guy, J.3    O'Doherty, D.4
  • 2
    • 35748940289 scopus 로고    scopus 로고
    • Episodic vertical oscillopsia with progressive gait ataxia: Clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q
    • Cha YH, Lee H, Jen JC, et al. Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q. J Neurol Neurosurg Psychiatry 2007; 78:1273-1275.
    • (2007) J Neurol Neurosurg Psychiatry , vol.78 , pp. 1273-1275
    • Cha, Y.H.1    Lee, H.2    Jen, J.C.3
  • 3
    • 0036897160 scopus 로고    scopus 로고
    • Practical approaches to neurogenetic disease
    • Lynch DR, Farmer J. Practical approaches to neurogenetic disease. J Neuroophthalmol 2002; 22:297-304.
    • (2002) J Neuroophthalmol , vol.22 , pp. 297-304
    • Lynch, D.R.1    Farmer, J.2
  • 4
    • 55649087127 scopus 로고    scopus 로고
    • Spinocerebellar ataxias
    • Mascalchi M. Spinocerebellar ataxias. Neurol Sci 2008; 29:S311 -S313.
    • (2008) Neurol Sci , vol.29
    • Mascalchi, M.1
  • 5
    • 54049124218 scopus 로고    scopus 로고
    • Spinocerebellar ataxia types 1,2,3, and 6
    • Schmitz-Hubsch T, Coudert M, Bauer P. Spinocerebellar ataxia types 1,2,3, and 6. Neurology 2008; 71:982-989.
    • (2008) Neurology , vol.71 , pp. 982-989
    • Schmitz-Hubsch, T.1    Coudert, M.2    Bauer, P.3
  • 6
    • 0031661913 scopus 로고    scopus 로고
    • Oculomotor phenotypes in autosomal dominant ataxias
    • Buttner N, Geschwind D, Jen J, et al. Oculomotor phenotypes in autosomal dominant ataxias. Arch Neurol 1998; 55:1353-1357.
    • (1998) Arch Neurol , vol.55 , pp. 1353-1357
    • Buttner, N.1    Geschwind, D.2    Jen, J.3
  • 7
    • 2642708379 scopus 로고    scopus 로고
    • Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I
    • Rivaud-Pechoux S, Durr A, Gaymard B, et al. Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I. Ann Neurol 1998; 43:297-302.
    • (1998) Ann Neurol , vol.43 , pp. 297-302
    • Rivaud-Pechoux, S.1    Durr, A.2    Gaymard, B.3
  • 8
    • 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; 42:924-932.
    • (1997) Ann Neurol , vol.42 , pp. 924-932
    • Schols, L.1    Amoiridis, G.2    Buttner, T.3
  • 9
    • 0028832215 scopus 로고
    • Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype
    • Robitaille Y, Schut L, Kish S. Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype. Acta Neuropath 1995; 90:572-581.
    • (1995) Acta Neuropath , vol.90 , pp. 572-581
    • Robitaille, Y.1    Schut, L.2    Kish, S.3
  • 10
    • 0038796980 scopus 로고    scopus 로고
    • Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2,3, 6, and 7 in Korean patients
    • Lee WY, Jin DK, Oh MR, et al. Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients. Arch Neurol 2003; 60:858-863;
    • (2003) Arch Neurol , vol.60 , pp. 858-863
    • Lee, W.Y.1    Jin, D.K.2    Oh, M.R.3
  • 11
    • 0042421716 scopus 로고    scopus 로고
    • Erratum
    • Erratum: Arch Neurol 2003; 60:1256.
    • (2003) Arch Neurol , vol.60 , pp. 1256
  • 12
    • 2642686623 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3
    • Abele M, Burk K, Andres F, et al. Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. Brain 1997; 120:2141-2148.
    • (1997) Brain , vol.120 , pp. 2141-2148
    • Abele, M.1    Burk, K.2    Andres, F.3
  • 13
    • 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. Nature Genet 1993; 4:221-226.
    • (1993) Nature Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.2    Banfi, S.3
  • 14
    • 65549134765 scopus 로고    scopus 로고
    • Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1
    • Zoghbi H, Orr H. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem 2009; 284:7425-7429.
    • (2009) J Biol Chem , vol.284 , pp. 7425-7429
    • Zoghbi, H.1    Orr, H.2
  • 15
    • 67650330344 scopus 로고    scopus 로고
    • Molecular pathogenesis of spinocerebellar ataxia type 1 disease
    • Kang S, Hong S. Molecular pathogenesis of spinocerebellar ataxia type 1 disease. Mol Cells 2009; 27:621-627.
    • (2009) Mol Cells , vol.27 , pp. 621-627
    • Kang, S.1    Hong, S.2
  • 16
    • 0029959667 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type I: Clinical features and MRI in families with SCA1, SCA2 and SCA3
    • Burk K, Abele M, Fetter M, et al. Autosomal dominant cerebellar ataxia type I: clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 1996; 119:1497-1505.
    • (1996) Brain , vol.119 , pp. 1497-1505
    • Burk, K.1    Abele, M.2    Fetter, M.3
  • 17
    • 35648965269 scopus 로고    scopus 로고
    • Electrophysiological features in patients and presymptomatic relatives with spinocerebellar ataxia type 2
    • Velazquez Pérez L, Sanchez Cruz G, Canales Ochoa N, et al. Electrophysiological features in patients and presymptomatic relatives with spinocerebellar ataxia type 2. Neurol Sci 2007; 263 (1-2):158 - 164.
    • (2007) Neurol Sci , vol.263 , Issue.1-2 , pp. 158-164
    • Velazquez Pérez, L.1    Sanchez Cruz, G.2    Canales Ochoa, N.3
  • 18
    • 49349110834 scopus 로고    scopus 로고
    • The neuroanatomical basis of slow saccades in spinocerebellar ataxia type 2 (Wadia-subtype)
    • Geiner S, Hom AK, Wadia NH, et al. The neuroanatomical basis of slow saccades in spinocerebellar ataxia type 2 (Wadia-subtype). Prog Brain Res 2008; 171:575-581.
    • (2008) Prog Brain Res , vol.171 , pp. 575-581
    • Geiner, S.1    Hom, A.K.2    Wadia, N.H.3
  • 19
    • 0018134793 scopus 로고
    • Dominant spinopontine atrophy: Report of two additional members of family W
    • Pogacar S, Ambler M, Conklin W, et al. Dominant spinopontine atrophy: report of two additional members of family W. Arch Neurol 1978; 35:156-162.
    • (1978) Arch Neurol , vol.35 , pp. 156-162
    • Pogacar, S.1    Ambler, M.2    Conklin, W.3
  • 20
    • 67651183756 scopus 로고    scopus 로고
    • Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2
    • Liu J, Tang T, Tu H, et al. Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J Neuroscience 2009; 29:9148-9162.
    • (2009) J Neuroscience , vol.29 , pp. 9148-9162
    • Liu, J.1    Tang, T.2    Tu, H.3
  • 21
    • 44949258917 scopus 로고    scopus 로고
    • Normal head impulse test differentiates acute cerebellar strokes from vestibular neuritis
    • Newman-Toker DE, Kattah JC, Alvernia JE, Wang DZ. Normal head impulse test differentiates acute cerebellar strokes from vestibular neuritis. Neurology 2008; 70 (24 Pt 2):2378-2385.
    • (2008) Neurology , vol.70 , Issue.24 PART 2 , pp. 2378-2385
    • Newman-Toker, D.E.1    Kattah, J.C.2    Alvernia, J.E.3    Wang, D.Z.4
  • 22
    • 0034971210 scopus 로고    scopus 로고
    • Neurologic findings is Machado-Joseph disease
    • Jardim L, Pereira M, Silveira I, et al. Neurologic findings is Machado-Joseph disease. Arch Neurol 2001; 58:899-904.
    • (2001) Arch Neurol , vol.58 , pp. 899-904
    • Jardim, L.1    Pereira, M.2    Silveira, I.3
  • 23
    • 0028882406 scopus 로고
    • Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth
    • Giunti P, Sweeney M, Harding A. Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth. Brain 1995; 118:1077-1085.
    • (1995) Brain , vol.118 , pp. 1077-1085
    • Giunti, P.1    Sweeney, M.2    Harding, A.3
  • 24
    • 0942287194 scopus 로고    scopus 로고
    • Poly-ubiquitin binding by the poly-glutamine disease protein ataxin-3 links its normal function to protein surveillance pathways
    • Chai Y, Berke S, Cohen R, Paulson H. Poly-ubiquitin binding by the poly-glutamine disease protein ataxin-3 links its normal function to protein surveillance pathways. J Biol Chem 2004; 279:3605-3611.
    • (2004) J Biol Chem , vol.279 , pp. 3605-3611
    • Chai, Y.1    Berke, S.2    Cohen, R.3    Paulson, H.4
  • 25
    • 0031454530 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset
    • Gomez CM, Thompson RM, Gammack JT, et al. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 1997; 42:933-950.
    • (1997) Ann Neurol , vol.42 , pp. 933-950
    • Gomez, C.M.1    Thompson, R.M.2    Gammack, J.T.3
  • 26
    • 77952561333 scopus 로고    scopus 로고
    • The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6
    • Kim JM, Lee JY, Kim HJ, et al. The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6. J Neurol Neurosurg Psychiatry 2010; 81:529-532.
    • (2010) J Neurol Neurosurg Psychiatry , vol.81 , pp. 529-532
    • Kim, J.M.1    Lee, J.Y.2    Kim, H.J.3
  • 27
    • 42249095826 scopus 로고    scopus 로고
    • Impaired eye movements in presymptomatic spinocerebellar ataxia type 6
    • Christova P, Anderson J, Gomez CM. Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. Arch Neurol 2008; 65:530-536.
    • (2008) Arch Neurol , vol.65 , pp. 530-536
    • Christova, P.1    Anderson, J.2    Gomez, C.M.3
  • 28
    • 64049097544 scopus 로고    scopus 로고
    • Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6
    • Colen C, Ketko A, George E, Van Stavern G. Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6. J Neuro-Ophthalmol 2008; 28:287-288.
    • (2008) J Neuro-Ophthalmol , vol.28 , pp. 287-288
    • Colen, C.1    Ketko, A.2    George, E.3    Van Stavern, G.4
  • 29
    • 0842345576 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy
    • Michalik A, Martin J, Van Broeckhoven C. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet 2004; 12:2-15.
    • (2004) Eur J Hum Genet , vol.12 , pp. 2-15
    • Michalik, A.1    Martin, J.2    Van Broeckhoven, C.3
  • 30
    • 70349509281 scopus 로고    scopus 로고
    • Unusual retinal phenotypes in an SCA7 family
    • Inaba H, Yabe I, Yashima M, et al. Unusual retinal phenotypes in an SCA7 family. Inter med 2009; 48:1461-1464.
    • (2009) Inter Med , vol.48 , pp. 1461-1464
    • Inaba, H.1    Yabe, I.2    Yashima, M.3
  • 31
    • 17744397508 scopus 로고    scopus 로고
    • Evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia
    • Jonasson J, Juvonen V, Sistonen P, et al. Evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. Europ J Hum Genet 2000; 8:918-922.
    • (2000) Europ J Hum Genet , vol.8 , pp. 918-922
    • Jonasson, J.1    Juvonen, V.2    Sistonen, P.3
  • 32
    • 70349125892 scopus 로고    scopus 로고
    • Neuro-ophthalmologic features of spinocer-ebellar ataxia type 7
    • Miller R, Tewari A, Miller J, et al. Neuro-ophthalmologic features of spinocer-ebellar ataxia type 7. J Neuro-ophthalmol 2009; 29:180-186.
    • (2009) J Neuro-Ophthalmol , vol.29 , pp. 180-186
    • Miller, R.1    Tewari, A.2    Miller, J.3
  • 33
    • 70349135557 scopus 로고    scopus 로고
    • Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings
    • Thurtell M, Fraser A, Bala E, et al. Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings. J Neuro-ophthalmology 2009; 29:187-191.
    • (2009) J Neuro-Ophthalmology , vol.29 , pp. 187-191
    • Thurtell, M.1    Fraser, A.2    Bala, E.3
  • 34
    • 70349113910 scopus 로고    scopus 로고
    • Ophthalmic features of spinocer-ebellar ataxia type 7
    • Manrique R, Noval S, Aguilar-Amat M, et al. Ophthalmic features of spinocer-ebellar ataxia type 7. J Neuro-ophthalmol 2009; 29:174-179.
    • (2009) J Neuro-Ophthalmol , vol.29 , pp. 174-179
    • Manrique, R.1    Noval, S.2    Aguilar-Amat, M.3
  • 35
    • 61749090887 scopus 로고    scopus 로고
    • Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7)
    • Hugosson T, Gränse L, Ponjavic V, Andréasson S. Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7). J Ophthalmic Genet 2009; 30:1-6.
    • (2009) J Ophthalmic Genet , vol.30 , pp. 1-6
    • Hugosson, T.1    Gränse, L.2    Ponjavic, V.3    Andréasson, S.4
  • 36
    • 18144383821 scopus 로고    scopus 로고
    • Anatomical and functional characteristics in atrophic maculopathy associated with spinocerebellar ataxia type 7
    • Ahn JK, Seo JM, Chung H, Yu HG. Anatomical and functional characteristics in atrophic maculopathy associated with spinocerebellar ataxia type 7. Am J Ophthalmol 2005; 139:923-925.
    • (2005) Am J Ophthalmol , vol.139 , pp. 923-925
    • Ahn, J.K.1    Seo, J.M.2    Chung, H.3    Yu, H.G.4
  • 37
    • 33144469732 scopus 로고    scopus 로고
    • Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program
    • Abou-Sleymane G, Chalmel F, Helmlinger D, et al. Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program. Hum Molec Genet 2006; 15:691-703.
    • (2006) Hum Molec Genet , vol.15 , pp. 691-703
    • Abou-Sleymane, G.1    Chalmel, F.2    Helmlinger, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.