메뉴 건너뛰기




Volumn 136, Issue 3, 2013, Pages 905-917

Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6

(20)  Reetz, Kathrin a,b,c   Costa, Ana S a   Mirzazade, Shahram a,b,c   Lehmann, Anna a,d   Juzek, Agnes a   Rakowicz, Maria e   Boguslawska, Romana f   Schöls, Ludger g,h   Linnemann, Christoph g,i   Mariotti, Caterina j   Grisoli, Marina j   Dürr, Alexandra k   Van De Warrenburg, Bart P l   Timmann, Dagmar m   Pandolfo, Massimo n   Bauer, Peter o   Jacobi, Heike p   Hauser, Till Karsten o   Klockgether, Thomas h,p   Schulz, Jörg B a,c  


Author keywords

atrophy; neurodegeneration; spinocerebellar ataxia; volumetry; voxel based morphometry

Indexed keywords

ATAXIN 1; ATAXIN 3;

EID: 84874913811     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws369     Document Type: Article
Times cited : (122)

References (62)
  • 2
    • 0029959667 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type i clinical features and MRI in families with SCA1
    • Burk K, Abele M, Fetter M, Dichgans J, Skalej M, Laccone F, et al. Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 1996; 119 (Pt 5): 1497-505.
    • (1996) SCA2 and SCA3. Brain , vol.119 PART 5 , pp. 1497-1505
    • Burk, K.1    Abele, M.2    Fetter, M.3    Dichgans, J.4    Skalej, M.5    Laccone, F.6
  • 3
    • 23744481711 scopus 로고    scopus 로고
    • Radiological characterization of spinocerebellar ataxia type 6
    • Butteriss D, Chinnery P, Birchall D. Radiological characterization of spinocerebellar ataxia type 6. Br J Radiol 2005; 78: 694-6.
    • (2005) Br J Radiol , vol.78 , pp. 694-696
    • Butteriss, D.1    Chinnery, P.2    Birchall, D.3
  • 4
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type i
    • Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 1993; 5: 254-8.
    • (1993) Nat Genet , vol.5 , pp. 254-258
    • Chung, M.Y.1    Ranum, L.P.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5    Orr, H.T.6
  • 7
    • 52049124455 scopus 로고    scopus 로고
    • Brain white matter damage in SCA1 and SCA2 An in vivo study using voxel-based morphometry, histogram analysis of mean diffusivity and tract-based spatial statistics
    • Della Nave R, Ginestroni A, Tessa C, Salvatore E, De Grandis D, Plasmati R, et al. Brain white matter damage in SCA1 and SCA2. An in vivo study using voxel-based morphometry, histogram analysis of mean diffusivity and tract-based spatial statistics. Neuroimage 2008; 43: 10-19.
    • (2008) Neuroimage , vol.43 , pp. 10-19
    • Della Nave, R.1    Ginestroni, A.2    Tessa, C.3    Salvatore, E.4    De Grandis, D.5    Plasmati, R.6
  • 8
    • 33748696963 scopus 로고    scopus 로고
    • A spatially unbiased atlas template of the human cerebellum
    • Diedrichsen J. A spatially unbiased atlas template of the human cerebellum. Neuroimage 2006; 33: 127-38.
    • (2006) Neuroimage , vol.33 , pp. 127-138
    • Diedrichsen, J.1
  • 10
    • 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, Stevanin G, Chneiweiss H, Penet C, 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: 176-80.
    • (1995) Ann Neurol , vol.37 , pp. 176-180
    • Dubourg, O.1    Durr, A.2    Cancel, G.3    Stevanin, G.4    Chneiweiss, H.5    Penet, C.6
  • 11
    • 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: 885-94.
    • (2010) Lancet Neurol , vol.9 , pp. 885-894
    • Durr, A.1
  • 12
    • 9244225693 scopus 로고    scopus 로고
    • Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
    • Durr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996; 39: 490-9.
    • (1996) Ann Neurol , vol.39 , pp. 490-499
    • Durr, A.1    Stevanin, G.2    Cancel, G.3    Duyckaerts, C.4    Abbas, N.5    Didierjean, O.6
  • 13
    • 79956064064 scopus 로고    scopus 로고
    • Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: Impact on clinical status
    • Eichler L, Bellenberg B, Hahn HK, Koster O, Schols L, Lukas C. Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. AJNR Am J Neuroradiol 2011; 32: 890-7.
    • (2011) AJNR Am J Neuroradiol , vol.32 , pp. 890-897
    • Eichler, L.1    Bellenberg, B.2    Hahn, H.K.3    Koster, O.4    Schols, L.5    Lukas, C.6
  • 14
    • 0033653112 scopus 로고    scopus 로고
    • An optimized method for estimating intracranial volume from magnetic resonance images
    • Eritaia J, Wood SJ, Stuart GW, Bridle N, Dudgeon P, Maruff P, et al. An optimized method for estimating intracranial volume from magnetic resonance images. Magn Reson Med 2000; 44: 973-7.
    • (2000) Magn Reson Med , vol.44 , pp. 973-977
    • Eritaia, J.1    Wood, S.J.2    Stuart, G.W.3    Bridle, N.4    Dudgeon, P.5    Maruff, P.6
  • 15
    • 0030272050 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes
    • Filla A, De Michele G, Campanella G, Perretti A, Santoro L, Serlenga L, et al. Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes. J Neurol Sci 1996; 142: 140-7.
    • (1996) J Neurol Sci , vol.142 , pp. 140-147
    • Filla, A.1    De Michele, G.2    Campanella, G.3    Perretti, A.4    Santoro, L.5    Serlenga, L.6
  • 20
    • 1242293819 scopus 로고    scopus 로고
    • Magnetic resonance imaging-based volumetry differentiates progressive supranuclear palsy from corticobasal degeneration
    • Groschel K, Hauser TK, Luft A, Patronas N, Dichgans J, Litvan I, et al. Magnetic resonance imaging-based volumetry differentiates progressive supranuclear palsy from corticobasal degeneration. Neuroimage 2004; 21: 714-24.
    • (2004) Neuroimage , vol.21 , pp. 714-724
    • Groschel, K.1    Hauser, T.K.2    Luft, A.3    Patronas, N.4    Dichgans, J.5    Litvan, I.6
  • 21
    • 4043130355 scopus 로고    scopus 로고
    • Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2 A quantitative volumetric, diffusion and proton spectroscopy MR study
    • Guerrini L, Lolli F, Ginestroni A, Belli G, Della Nave R, Tessa C, et al. Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study. Brain 2004; 127: 1785-95.
    • (2004) Brain , vol.127 , pp. 1785-1795
    • Guerrini, L.1    Lolli, F.2    Ginestroni, A.3    Belli, G.4    Della Nave, R.5    Tessa, C.6
  • 22
    • 33751003483 scopus 로고    scopus 로고
    • Visualization and quantification of disease progression in multiple system atrophy
    • Hauser TK, Luft A, Skalej M, Nagele T, Kircher TT, Leube DT, et al. Visualization and quantification of disease progression in multiple system atrophy. Mov Disord 2006; 21: 1674-81.
    • (2006) Mov Disord , vol.21 , pp. 1674-1681
    • Hauser, T.K.1    Luft, A.2    Skalej, M.3    Nagele, T.4    Kircher, T.T.5    Leube, D.T.6
  • 23
    • 85009332113 scopus 로고    scopus 로고
    • Unified Huntington's Disease Rating Scale: Reliability and consistency
    • HuntingtonStudyGroup
    • HuntingtonStudyGroup. Unified Huntington's Disease Rating Scale: reliability and consistency. Mov Disord 1996; 11: 136-42.
    • (1996) Mov Disord , vol.11 , pp. 136-142
  • 24
    • 79958072622 scopus 로고    scopus 로고
    • The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study
    • Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, et al. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology 2011; 77: 1035-41.
    • Neurology 2011 , vol.77 , pp. 1035-1041
    • Jacobi, H.1    Bauer, P.2    Giunti, P.3    Labrum, R.4    Sweeney, M.G.5    Charles, P.6
  • 25
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994; 8: 221-8.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3    Aizawa, M.4    Inoue, M.5    Katayama, S.6
  • 26
    • 27744518721 scopus 로고    scopus 로고
    • Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)
    • Khan NL, Giunti P, Sweeney MG, Scherfler C, Brien MO, Piccini P, et al. Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6). Mov Disord 2005; 20: 1115-19.
    • (2005) Mov Disord , vol.20 , pp. 1115-1119
    • Khan, N.L.1    Giunti, P.2    Sweeney, M.G.3    Scherfler, C.4    Brien, M.O.5    Piccini, P.6
  • 28
    • 6844236985 scopus 로고    scopus 로고
    • The natural history of degenerative ataxia: A retrospective study in 466 patients
    • Klockgether T, Ludtke R, Kramer B, Abele M, Burk K, Schols L, et al. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain 1998a; 121 (Pt 4): 589-600.
    • (1998) Brain , vol.121 PART 4 , pp. 589-600
    • Klockgether, T.1    Ludtke, R.2    Kramer, B.3    Abele, M.4    Burk, K.5    Schols, L.6
  • 29
    • 0031683168 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type i MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3
    • Klockgether T, Skalej M, Wedekind D, Luft AR, Welte D, Schulz JB, et al. Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain 1998b; 121 (Pt 9): 1687-93.
    • Brain 1998b , vol.121 PART 9 , pp. 1687-1693
    • Klockgether, T.1    Skalej, M.2    Wedekind, D.3    Luft, A.R.4    Welte, D.5    Schulz, J.B.6
  • 30
    • 0031841672 scopus 로고    scopus 로고
    • A new semiautomated, three-dimensional technique allowing precise quantification of total and regional cerebellar volume using MRI
    • Luft AR, Skalej M, Welte D, Kolb R, Burk K, Schulz JB, et al. A new semiautomated, three-dimensional technique allowing precise quantification of total and regional cerebellar volume using MRI. Magn Reson Med 1998; 40: 143-51.
    • (1998) Magn Reson Med , vol.40 , pp. 143-151
    • Luft, A.R.1    Skalej, M.2    Welte, D.3    Kolb, R.4    Burk, K.5    Schulz, J.B.6
  • 32
    • 33749515747 scopus 로고    scopus 로고
    • Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: A voxel-based morphometry study
    • Lukas C, Schols L, Bellenberg B, Rub U, Przuntek H, Schmid G, et al. Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: a voxel-based morphometry study. Neurosci Lett 2006; 408: 230-5.
    • (2006) Neurosci Lett , vol.408 , pp. 230-235
    • Lukas, C.1    Schols, L.2    Bellenberg, B.3    Rub, U.4    Przuntek, H.5    Schmid, G.6
  • 33
    • 0041669248 scopus 로고    scopus 로고
    • An automated method for neuroanatomic and cytoarchitectonic atlas-based interrogation of fMRI data sets
    • Maldjian JA, Laurienti PJ, Kraft RA, Burdette JH. An automated method for neuroanatomic and cytoarchitectonic atlas-based interrogation of fMRI data sets. Neuroimage 2003; 19: 1233-9.
    • (2003) Neuroimage , vol.19 , pp. 1233-1239
    • Maldjian, J.A.1    Laurienti, P.J.2    Kraft, R.A.3    Burdette, J.H.4
  • 36
    • 58149308310 scopus 로고    scopus 로고
    • Spinocerebellar ataxias types 1, 2 and 3: Age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths
    • Netravathi M, Pal PK, Purushottam M, Thennarasu K, Mukherjee M, Jain S. Spinocerebellar ataxias types 1, 2 and 3: age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths. J Neurol Sci 2009; 277: 83-6.
    • (2009) J Neurol Sci , vol.277 , pp. 83-86
    • Netravathi, M.1    Pal, P.K.2    Purushottam, M.3    Thennarasu, K.4    Mukherjee, M.5    Jain, S.6
  • 37
    • 0031914409 scopus 로고    scopus 로고
    • Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease
    • Onodera O, Idezuka J, Igarashi S, Takiyama Y, Endo K, Takano H, et al. Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease. Ann Neurol 1998; 43: 288-96.
    • (1998) Ann Neurol , vol.43 , pp. 288-296
    • Onodera, O.1    Idezuka, J.2    Igarashi, S.3    Takiyama, Y.4    Endo, K.5    Takano, H.6
  • 38
    • 0024997225 scopus 로고
    • Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin
    • 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: 1369-75.
    • (1990) Cuba. Neurology , vol.40 , pp. 1369-1375
    • Orozco Diaz, G.1    Nodarse Fleites, A.2    Cordoves Sagaz, R.3    Auburger, G.4
  • 39
    • 34547692622 scopus 로고    scopus 로고
    • Trinucleotide repeat disorders
    • Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annu Rev Neurosci 2007; 30: 575-621.
    • (2007) Annu Rev Neurosci , vol.30 , pp. 575-621
    • Orr, H.T.1    Zoghbi, H.Y.2
  • 40
    • 70349105130 scopus 로고    scopus 로고
    • The spinocerebellar ataxias
    • Paulson HL. The spinocerebellar ataxias. J Neuroophthalmol 2009; 29: 227-37.
    • (2009) J Neuroophthalmol , vol.29 , pp. 227-237
    • Paulson, H.L.1
  • 41
    • 77955494367 scopus 로고    scopus 로고
    • Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17
    • Reetz K, Lencer R, Hagenah JM, Gaser C, Tadic V, Walter U, et al. Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. Cerebellum 2010; 9: 210-17.
    • (2010) Cerebellum , vol.9 , pp. 210-217
    • Reetz, K.1    Lencer, R.2    Hagenah, J.M.3    Gaser, C.4    Tadic, V.5    Walter, U.6
  • 42
    • 8544235014 scopus 로고    scopus 로고
    • SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene
    • Riess O, Schols L, Bottger H, Nolte D, Vieira-Saecker AM, Schimming C, et al. SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. Hum Mol Genet 1997; 6: 1289-93.
    • (1997) Hum Mol Genet , vol.6 , pp. 1289-1293
    • Riess, O.1    Schols, L.2    Bottger, H.3    Nolte, D.4    Vieira-Saecker, A.M.5    Schimming, C.6
  • 51
    • 2642589007 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?
    • Schols L, Amoiridis G, Buttner T, Przuntek H, Epplen JT, Riess O. 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    Przuntek, H.4    Epplen, J.T.5    Riess, O.6
  • 52
    • 11144356369 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
    • Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004; 3: 291-304.
    • Lancet Neurol 2004 , vol.3 , pp. 291-304
    • Schols, L.1    Bauer, P.2    Schmidt, T.3    Schulte, T.4    Riess, O.5
  • 54
    • 70349962976 scopus 로고    scopus 로고
    • Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1,3 and 6
    • Schulz JB, Borkert J, Wolf S, Schmitz-Hubsch T, Rakowicz M, Mariotti C, et al. Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage 2010; 49: 158-68.
    • Neuroimage 2010 , vol.49 , pp. 158-168
    • Schulz, J.B.1    Borkert, J.2    Wolf, S.3    Schmitz-Hubsch, T.4    Rakowicz, M.5    Mariotti, C.6
  • 55
    • 0032925853 scopus 로고    scopus 로고
    • Magnetic resonance imaging-based volumetry differentiates idiopathic Parkinson's syndrome from multiple system atrophy and progressive supranuclear palsy
    • Schulz JB, Skalej M, Wedekind D, Luft AR, Abele M, Voigt K, et al. Magnetic resonance imaging-based volumetry differentiates idiopathic Parkinson's syndrome from multiple system atrophy and progressive supranuclear palsy. Ann Neurol 1999; 45: 65-74.
    • Ann Neurol 1999 , vol.45 , pp. 65-74
    • Schulz, J.B.1    Skalej, M.2    Wedekind, D.3    Luft, A.R.4    Abele, M.5    Voigt, K.6
  • 57
    • 0035116625 scopus 로고    scopus 로고
    • Metabolic characterization of spinocerebellar ataxia type 6
    • Soong B, Liu R, Wu L, Lu Y, Lee H. Metabolic characterization of spinocerebellar ataxia type 6. Arch Neurol 2001; 58: 300-4.
    • Arch Neurol 2001 , vol.58 , pp. 300-304
    • Soong, B.1    Liu, R.2    Wu, L.3    Lu, Y.4    Lee, H.5
  • 58
    • 83555173501 scopus 로고    scopus 로고
    • Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: Analysis of 24 month observational data
    • Tabrizi SJ, Reilmann R, Roos RA, Durr A, Leavitt B, Owen G, et al. Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data. Lancet Neurol 2012; 11: 42-53.
    • Lancet Neurol 2012 , vol.11 , pp. 42-53
    • Tabrizi, S.J.1    Reilmann, R.2    Roos, R.A.3    Durr, A.4    Leavitt, B.5    Owen, G.6
  • 61
    • 34748829960 scopus 로고    scopus 로고
    • Reliability and validity of the scale for the assessment and rating of ataxia: A study in 64 ataxia patients
    • Weyer A, Abele M, Schmitz-Hubsch T, Schoch B, Frings M, Timmann D, et al. Reliability and validity of the scale for the assessment and rating of ataxia: a study in 64 ataxia patients. Mov Disord 2007; 22: 1633-7.
    • Mov Disord 2007 , vol.22 , pp. 1633-1637
    • Weyer, A.1    Abele, M.2    Schmitz-Hubsch, T.3    Schoch, B.4    Frings, M.5    Timmann, D.6
  • 62
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997; 15: 62-9.
    • Nat Genet 1997 , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3    Ashizawa, T.4    Stockton, D.W.5    Amos, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.