메뉴 건너뛰기




Volumn 120, Issue 12, 1997, Pages 2141-2148

Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3

Author keywords

Autosomal dominant cerebellar ataxia; Evoked potentials; Nerve conduction

Indexed keywords

ACTION POTENTIAL; ADULT; ARTICLE; BRAIN STEM; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; DIPLOPIA; DYSPHAGIA; EVOKED AUDITORY RESPONSE; EVOKED MUSCLE RESPONSE; EVOKED RESPONSE; EVOKED SOMATOSENSORY RESPONSE; EVOKED VISUAL RESPONSE; GENE LOCUS; GENE MUTATION; GENOTYPE; HUMAN; HUMAN EXPERIMENT; MOLECULAR GENETICS; NERVE CONDUCTION; NERVE FIBER; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PYRAMIDAL TRACT; SENSORY NERVE; SENSORY NEUROPATHY; TRANSCRANIAL MAGNETIC STIMULATION;

EID: 2642686623     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/120.12.2141     Document Type: Article
Times cited : (116)

References (49)
  • 1
    • 34250457933 scopus 로고
    • Dominantly inherited type of cerebellar ataxia
    • Becker P, Sabuncu N, Hopf H. Dominantly inherited type of cerebellar ataxia. Z Neurol 1971; 199: 116-39.
    • (1971) Z Neurol , vol.199 , pp. 116-139
    • Becker, P.1    Sabuncu, N.2    Hopf, H.3
  • 2
    • 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, Cancel G, LeGuern E, David G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3pl2-p21.1. Nat Genet 1995; 10: 84-8.
    • (1995) Nat Genet , vol.10 , pp. 84-88
    • Benomar, A.1    Krols, L.2    Stevanin, G.3    Cancel, G.4    LeGuern, E.5    David, G.6
  • 3
    • 0019434490 scopus 로고
    • Pattern-reversal visual evoked potentials in the hereditary ataxias and spinal degenerations
    • Bird TD, Crill WE. Pattern-reversal visual evoked potentials in the hereditary ataxias and spinal degenerations. Ann Neurol 1981; 9: 243-50.
    • (1981) Ann Neurol , vol.9 , pp. 243-250
    • Bird, T.D.1    Crill, W.E.2
  • 4
    • 0029959667 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type I. Clinical features and MRI in families with SCA1, SCA2 and SCA3
    • Bürk 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: 1497-505.
    • (1996) Brain , vol.119 , pp. 1497-1505
    • Bürk, K.1    Abele, M.2    Fetter, M.3    Dichgans, J.4    Skalej, M.5    Laccone, F.6
  • 5
    • 0021350013 scopus 로고
    • Electromyography and nerve conduction study in autosomal dominant olivopontocerebellar atrophy
    • Carenini L, Finocchiaro G, Di Donato S, Visciani A, Negri S. Electromyography and nerve conduction study in autosomal dominant olivopontocerebellar atrophy. J Neurol 1984; 231: 34-7.
    • (1984) J Neurol , vol.231 , pp. 34-37
    • Carenini, L.1    Finocchiaro, G.2    Di Donato, S.3    Visciani, A.4    Negri, S.5
  • 8
    • 0027742974 scopus 로고
    • Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity
    • Dürr A, Chneiweiss H, Khati C, Stevanin G, Cancel G, Feingold J, et al. Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. Brain 1993; 116: 1497-508.
    • (1993) Brain , vol.116 , pp. 1497-1508
    • Dürr, A.1    Chneiweiss, H.2    Khati, C.3    Stevanin, G.4    Cancel, G.5    Feingold, J.6
  • 9
    • 0029611008 scopus 로고
    • Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
    • Dürr A, Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J, et al. Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 1995; 118: 1573-81.
    • (1995) Brain , vol.118 , pp. 1573-1581
    • Dürr, A.1    Smadja, D.2    Cancel, G.3    Lezin, A.4    Stevanin, G.5    Mikol, J.6
  • 10
    • 9244225693 scopus 로고    scopus 로고
    • Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
    • Dürr 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
    • Dürr, A.1    Stevanin, G.2    Cancel, G.3    Duyckaerts, C.4    Abbas, N.5    Didierjean, O.6
  • 11
    • 0029792130 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
    • Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996; 59: 392-9.
    • (1996) Am J Hum Genet , vol.59 , pp. 392-399
    • Flanigan, K.1    Gardner, K.2    Alderson, K.3    Galster, B.4    Otterud, B.5    Leppert, M.F.6
  • 12
    • 0028819081 scopus 로고
    • Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms
    • Genis D, Matilla T, Volpini V, Rosell J, Davalos A, Ferrer I, et al. Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms [see comments]. Neurology 1995; 45: 24-30. Comment in: Neurology 1995; 45: 1-5.
    • (1995) Neurology , vol.45 , pp. 24-30
    • Genis, D.1    Matilla, T.2    Volpini, V.3    Rosell, J.4    Davalos, A.5    Ferrer, I.6
  • 13
    • 0028819081 scopus 로고
    • Genis D, Matilla T, Volpini V, Rosell J, Davalos A, Ferrer I, et al. Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms [see comments]. Neurology 1995; 45: 24-30. Comment in: Neurology 1995; 45: 1-5.
    • (1995) Neurology , vol.45 , pp. 1-5
  • 14
    • 0030040304 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions
    • Gilman S, Sima AAF, Junck L, Kluin KJ, Koeppe RA, Lohman ME, et al. Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions. Ann Neurol 1996; 39: 241-55.
    • (1996) Ann Neurol , vol.39 , pp. 241-255
    • Gilman, S.1    Sima, A.A.F.2    Junck, L.3    Kluin, K.J.4    Koeppe, R.A.5    Lohman, M.E.6
  • 15
    • 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, Brice A, Weber J, Heredero L, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 1993; 4: 295-9.
    • (1993) Nat Genet , vol.4 , pp. 295-299
    • Gispert, S.1    Twells, R.2    Orozco, G.3    Brice, A.4    Weber, J.5    Heredero, L.6
  • 18
    • 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
  • 19
    • 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, Devys D, Trottier Y, Gamier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats [see comments]. Nat Genet 1996; 14: 285-91. Comment in: Nat Genet 1996; 14: 237-8.
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3    Devys, D.4    Trottier, Y.5    Gamier, J.M.6
  • 20
    • 0030294445 scopus 로고    scopus 로고
    • Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Gamier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats [see comments]. Nat Genet 1996; 14: 285-91. Comment in: Nat Genet 1996; 14: 237-8.
    • (1996) Nat Genet , vol.14 , pp. 237-238
  • 21
    • 0029049256 scopus 로고
    • Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan
    • Kameya T, Abe K, Aoki M, Sahara M, Tobita M, Konno H, et al. Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan. Neurology 1995; 45: 1587-94.
    • (1995) Neurology , vol.45 , pp. 1587-1594
    • Kameya, T.1    Abe, K.2    Aoki, M.3    Sahara, M.4    Tobita, M.5    Konno, H.6
  • 22
    • 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 [see comments]. Nat Genet 1994; 8: 221-8. Comment in: Nat Genet 1994; 8: 213-5.
    • (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
  • 23
    • 0027996828 scopus 로고
    • 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 [see comments]. Nat Genet 1994; 8: 221-8. Comment in: Nat Genet 1994; 8: 213-5.
    • (1994) Nat Genet , vol.8 , pp. 213-215
  • 25
    • 0022164664 scopus 로고
    • Brainstem auditory evoked responses in hereditary spinocerebellar ataxias
    • Knezevic W, Stewart-Wynne EG. Brainstem auditory evoked responses in hereditary spinocerebellar ataxias. Clin Exp Neurol 1985; 21: 149-55.
    • (1985) Clin Exp Neurol , vol.21 , pp. 149-155
    • Knezevic, W.1    Stewart-Wynne, E.G.2
  • 26
    • 0028215542 scopus 로고
    • Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region
    • Lopes-Cendes I, Andermann E, Attig E, Cendes F, Bösch S, Wagner M, et al. Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region. Am J Hum Genet 1994; 54: 774-81.
    • (1994) Am J Hum Genet , vol.54 , pp. 774-781
    • Lopes-Cendes, I.1    Andermann, E.2    Attig, E.3    Cendes, F.4    Bösch, S.5    Wagner, M.6
  • 27
    • 0027970036 scopus 로고
    • Reduction of corticospinal excitability by magnetic stimulation over the cerebellum in patients with large detects of one cerebellar hemisphere
    • Meyer BU, Roricht S, Machetanz J. Reduction of corticospinal excitability by magnetic stimulation over the cerebellum in patients with large detects of one cerebellar hemisphere. Electroencephalogr Clin Neurophysiol 1994; 93: 372-9.
    • (1994) Electroencephalogr Clin Neurophysiol , vol.93 , pp. 372-379
    • Meyer, B.U.1    Roricht, S.2    Machetanz, J.3
  • 28
  • 32
    • 0020702583 scopus 로고
    • Evoked potential abnormalities in the various inherited ataxias
    • Nuwer MR, Perlman SL, Packwood JW, Kark RA. Evoked potential abnormalities in the various inherited ataxias. Ann Neurol 1983; 13: 20-7.
    • (1983) Ann Neurol , vol.13 , pp. 20-27
    • Nuwer, M.R.1    Perlman, S.L.2    Packwood, J.W.3    Kark, R.A.4
  • 33
    • 0024422743 scopus 로고
    • Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings
    • Orozco G, Estrada R, Perry TL, Arana J, Fernandez R, Gonzalez-Quevedo A, et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings. J Neurol Sci 1989; 93: 37-50.
    • (1989) J Neurol Sci , vol.93 , pp. 37-50
    • Orozco, G.1    Estrada, R.2    Perry, T.L.3    Arana, J.4    Fernandez, R.5    Gonzalez-Quevedo, A.6
  • 34
    • 0024997225 scopus 로고
    • Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguinm, Cuba
    • 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 Holguinm, Cuba. Neurology 1990; 40: 1369-75.
    • (1990) Neurology , vol.40 , pp. 1369-1375
    • Orozco Diaz, G.1    Nodarse Fleites, A.2    Cordoves Sagaz, R.3    Auburger, G.4
  • 36
    • 0019815380 scopus 로고
    • Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia
    • Pedersen L, Trojaborg W. Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia. Electroencephalogr Clin Neurophysiol 1981; 52: 283-97.
    • (1981) Electroencephalogr Clin Neurophysiol , vol.52 , pp. 283-297
    • Pedersen, L.1    Trojaborg, W.2
  • 37
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 [see comments]. Nat Genet 1996; 14: 269-76. Comment in: Nat Genet 1996; 14: 237-8.
    • (1996) Nat Genet , vol.14 , pp. 269-276
    • Pulst, S.M.1    Nechiporuk, A.2    Nechiporuk, T.3    Gispert, S.4    Chen, X.N.5    Lopes-Cendes, I.6
  • 38
    • 0030294445 scopus 로고    scopus 로고
    • Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 [see comments]. Nat Genet 1996; 14: 269-76. Comment in: Nat Genet 1996; 14: 237-8.
    • (1996) Nat Genet , vol.14 , pp. 237-238
  • 39
    • 0028020605 scopus 로고
    • Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
    • Ranum LP, 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: 280-4.
    • (1994) Nat Genet , vol.8 , pp. 280-284
    • Ranum, L.P.1    Schut, L.J.2    Lundgren, J.K.3    Orr, H.T.4    Livingston, D.M.5
  • 40
    • 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, Sato T, Oyake M, Sasaki H, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT [see comments]. Nat Genet 1996; 14: 277-84. Comment in: Nat Genet 1996; 14: 237-8.
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3    Sato, T.4    Oyake, M.5    Sasaki, H.6
  • 41
    • 0030294445 scopus 로고    scopus 로고
    • Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT [see comments]. Nat Genet 1996; 14: 277-84. Comment in: Nat Genet 1996; 14: 237-8.
    • (1996) Nat Genet , vol.14 , pp. 237-238
  • 42
    • 0000051759 scopus 로고
    • Hereditary ataxia. Clinical study through six generations
    • Schut JW. Hereditary ataxia. Clinical study through six generations. Arch Neurol Psychiatry 1950; 63: 535-68.
    • (1950) Arch Neurol Psychiatry , vol.63 , pp. 535-568
    • Schut, J.W.1
  • 43
    • 0026582590 scopus 로고
    • HLA-linked spinocerebellar ataxia: A clinical and genetic study of large Italian kindreds
    • Spadaro M, Giunti P, Lulli P, Frontali M, Jodice C, Cappellacci S, et al. HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds. Acta Neurol Scand 1992; 85: 257-65.
    • (1992) Acta Neurol Scand , vol.85 , pp. 257-265
    • Spadaro, M.1    Giunti, P.2    Lulli, P.3    Frontali, M.4    Jodice, C.5    Cappellacci, S.6
  • 44
    • 0021078693 scopus 로고
    • Visual evoked potentials in spinocerebellar degenerations
    • Sridharan R. Visual evoked potentials in spinocerebellar degenerations. Clin Neurol Neurosurg 1983; 85: 235-43.
    • (1983) Clin Neurol Neurosurg , vol.85 , pp. 235-243
    • Sridharan, R.1
  • 45
    • 0028157908 scopus 로고
    • A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: Evidence for the existence of a fourth locus
    • Stevanin G, Le Guern E, Ravise N, Chneiweiss H, Dürr A, Cancel G, et al. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 1994; 54: 11-20.
    • (1994) Am J Hum Genet , vol.54 , pp. 11-20
    • Stevanin, G.1    Le Guern, E.2    Ravise, N.3    Chneiweiss, H.4    Dürr, A.5    Cancel, G.6
  • 46
    • 0028141691 scopus 로고
    • A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNa markers on chromosome 14q
    • Takiyama Y, Oyanagi S, Kawashima S, Sakamoto H, Saito K, Yoshida M, et al. A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology 1994; 44: 1302-8.
    • (1994) Neurology , vol.44 , pp. 1302-1308
    • Takiyama, Y.1    Oyanagi, S.2    Kawashima, S.3    Sakamoto, H.4    Saito, K.5    Yoshida, M.6
  • 47
    • 0027469873 scopus 로고
    • Follow-up of neurophysiological tests and CT in late-onset cerebellar ataxia and multiple system atrophy
    • Wessel K, Huss GP, Brückmann H, Kömpf D. Follow-up of neurophysiological tests and CT in late-onset cerebellar ataxia and multiple system atrophy. J Neurol 1993; 240: 168-76.
    • (1993) J Neurol , vol.240 , pp. 168-176
    • Wessel, K.1    Huss, G.P.2    Brückmann, H.3    Kömpf, D.4
  • 48
    • 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
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3    Ashizawa, T.4    Stockton, D.W.5    Amos, C.6
  • 49
    • 0025871615 scopus 로고
    • The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds
    • Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ Jr, McCall AE, Huntoon SA, et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet 1991; 49: 23-30.
    • (1991) Am J Hum Genet , vol.49 , pp. 23-30
    • Zoghbi, H.Y.1    Jodice, C.2    Sandkuijl, L.A.3    Kwiatkowski Jr., T.J.4    McCall, A.E.5    Huntoon, S.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.