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Volumn 142, Issue 1-2, 1996, Pages 45-53

Autosomal dominant cerebellar ataxia type I: Multimodal electrophysiological study and comparison between SCA1 and SCA2 patients

Author keywords

dominant ataxia; evoked potentials; magnetic cortical stimulation; nerve conduction; spinocerebellar degeneration

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CONTROLLED STUDY; EVOKED SOMATOSENSORY RESPONSE; FEMALE; HUMAN; HUMAN TISSUE; MALE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0030272725     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(96)00140-2     Document Type: Article
Times cited : (54)

References (47)
  • 1
    • 0015108568 scopus 로고
    • Normal sensory conduction in nerves of the leg in man
    • Behse, F., Buchthal, F., (1971) Normal sensory conduction in nerves of the leg in man. J. Neurol. Neurosurg. Psychiat., 34: 404-414.
    • (1971) J. Neurol. Neurosurg. Psychiat. , vol.34 , pp. 404-414
    • Behse, F.1    Buchthal, F.2
  • 2
    • 0028025275 scopus 로고
    • Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus
    • Belal, S., Cancel, G., Stevanin, G., Hentati, F., Khati, C., Ben Hamida, C. et al. (1994) Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology, 44: 1423-1426.
    • (1994) Neurology , vol.44 , pp. 1423-1426
    • Belal, S.1    Cancel, G.2    Stevanin, G.3    Hentati, F.4    Khati, C.5    Ben Hamida, C.6
  • 3
    • 0020076144 scopus 로고
    • Olivopontocerebellar atrophy. A review of 117 cases
    • Berciano, J., (1982) Olivopontocerebellar atrophy. A review of 117 cases. J. Neurol. Sci., 53: 253-272.
    • (1982) J. Neurol. Sci. , vol.53 , pp. 253-272
    • Berciano, J.1
  • 4
    • 33751370081 scopus 로고
    • Evoked action potentials and conduction velocity in human sensory nerves
    • Buchthal, F., Rosenfalck, A. (1966) Evoked action potentials and conduction velocity in human sensory nerves. Brain Res., 3: 1-122.
    • (1966) Brain Res. , vol.3 , pp. 1-122
    • Buchthal, F.1    Rosenfalck, A.2
  • 9
    • 0021128137 scopus 로고
    • Evoked potentials studies in Friedreich's ataxia and olivopontocerebellar atrophy. Inherited ataxias: Clinical aspects and biology
    • Cosi, V., Piccolo, G., Callieco, R. (1984): Evoked potentials studies in Friedreich's ataxia and olivopontocerebellar atrophy. Inherited ataxias: clinical aspects and biology. Ital. J. Sci. Suppl. 4/172-181.
    • (1984) Ital. J. Sci. Suppl. , vol.4 , Issue.172-181
    • Cosi, V.1    Piccolo, G.2    Callieco, R.3
  • 10
    • 0026681085 scopus 로고
    • Central motor conduction to upper and lower limbs after magnetic stimulation of the brain and peripheral nerve abnormalities in 20 patients with Friedreich's ataxia
    • Cruz-Martinez, A. and Anciones, B. (1992) Central motor conduction to upper and lower limbs after magnetic stimulation of the brain and peripheral nerve abnormalities in 20 patients with Friedreich's ataxia. Acta Neurol. Scand., 85: 323-326.
    • (1992) Acta Neurol. Scand. , vol.85 , pp. 323-326
    • Cruz-Martinez, A.1    Anciones, B.2
  • 11
    • 0015410632 scopus 로고
    • Spinocerebellar ataxia: Study of a large kindred. I. General information and genetics
    • Currier, R.D., Glover, G., Jackson, J.F. and Tipton, A.C. (1972) Spinocerebellar ataxia: study of a large kindred. I. General information and genetics. Neurology, 22: 1040-1043.
    • (1972) Neurology , vol.22 , pp. 1040-1043
    • Currier, R.D.1    Glover, G.2    Jackson, J.F.3    Tipton, A.C.4
  • 12
    • 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. (1993) Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. Brain, 116: 1497-1508.
    • (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
  • 14
    • 0001172320 scopus 로고
    • Autosomal dominant spinocerebellar ataxia: Clinical description of a distinct hereditary ataxia and genetic localization to choromosome 16 (SCA4) in a Utah Kindred
    • Gardner, K., Alderson, K., Gallster, B., Kaplan, C., Leppert, M., Ptacek, L. (1994) Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to choromosome 16 (SCA4) in a Utah kindred. Neurology, 44 (suppl 2): A361.
    • (1994) Neurology , vol.44 , Issue.SUPPL. 2
    • Gardner, K.1    Alderson, K.2    Gallster, B.3    Kaplan, C.4    Leppert, M.5    Ptacek, L.6
  • 17
    • 0021741939 scopus 로고
    • Spinocerebellar ataxia in a large kindred: Age at onset, reproduction and genetic linkage studies
    • Haines, J.L., Schut, L.J., Weitkamp, L.R., Thayer, M., Anderson, V.E. (1984) Spinocerebellar ataxia in a large kindred: age at onset, reproduction and genetic linkage studies. Neurology, 34: 1542-1548.
    • (1984) Neurology , vol.34 , pp. 1542-1548
    • Haines, J.L.1    Schut, L.J.2    Weitkamp, L.R.3    Thayer, M.4    Anderson, V.E.5
  • 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 'Drew family of Walworth'
    • Harding, A.E. (1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families including descendants of the 'Drew family of Walworth'. Brain,105: 1-28.
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.E.1
  • 19
    • 0020641096 scopus 로고
    • Classification of the hereditary ataxias and paraplegia
    • Harding, A.E. (1983) Classification of the hereditary ataxias and paraplegia. Lancet ; i: 1151-1155.
    • (1983) Lancet , vol.1 , pp. 1151-1155
    • Harding, A.E.1
  • 21
    • 0029690663 scopus 로고    scopus 로고
    • Machado-Joseph disease and SCA3: The genotype meets the phenotypes
    • Junck, L. and Fink, J. (1996) Machado-Joseph disease and SCA3: the genotype meets the phenotypes. Neurology, 46: 4-8.
    • (1996) Neurology , vol.46 , pp. 4-8
    • Junck, L.1    Fink, J.2
  • 22
    • 0025775734 scopus 로고
    • Early onset cerebellar ataxia with retained reflexes: Clinical electrophysiological and MRI observations in comparison with friedreich's ataxia
    • Klockgether, T., Petersen, D., Grodd, W., Dichgans, J. (1991) Early onset cerebellar ataxia with retained reflexes: clinical electrophysiological and MRI observations in comparison with Friedreich's ataxia. Brain, 114: 1559-1573.
    • (1991) Brain , vol.114 , pp. 1559-1573
    • Klockgether, T.1    Petersen, D.2    Grodd, W.3    Dichgans, J.4
  • 23
    • 0022546210 scopus 로고
    • Hereditary cerebellar ataxia and genetic linkage with HLA
    • Kumar, D., Blanck, C.E., Gelsthorpe, K. (1986) Hereditary cerebellar ataxia and genetic linkage with HLA. Hum Genet., 72: 327-332.
    • (1986) Hum Genet. , vol.72 , pp. 327-332
    • Kumar, D.1    Blanck, C.E.2    Gelsthorpe, K.3
  • 25
  • 28
    • 0020702583 scopus 로고
    • Evoked potentials abnormalities in the various inherited ataxias
    • Nuwer, M.R., Perlman, S.L., Packwood, J.W. and Kark, P.A. (1983) Evoked potentials abnormalities in the various inherited ataxias. Ann. Neurol., 13: 20-27.
    • (1983) Ann. Neurol. , vol.13 , pp. 20-27
    • Nuwer, M.R.1    Perlman, S.L.2    Packwood, J.W.3    Kark, P.A.4
  • 29
    • 0024997225 scopus 로고
    • Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba
    • Orozco Diaz, G., Nodarse Fleites, A., Cordovés Sagaz, R., Auburger, G. (1990) Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology, 40: 1369-1375.
    • (1990) Neurology , vol.40 , pp. 1369-1375
    • Orozco Diaz, G.1    Nodarse Fleites, A.2    Cordovés Sagaz, R.3    Auburger, G.4
  • 30
    • 0019815380 scopus 로고
    • Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia
    • Pedersen, L. and Trojaborg, W. (1981) Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia. Electroenceph. clin. Neurophysiol., 52: 283-297.
    • (1981) Electroenceph. Clin. Neurophysiol. , vol.52 , pp. 283-297
    • Pedersen, L.1    Trojaborg, W.2
  • 34
    • 0027180211 scopus 로고
    • Anticipation in spinocerebellar ataxia type 2
    • Pulst, S.M., Nechiporuk, A., Starkman, S. (1993) Anticipation in spinocerebellar ataxia type 2. Nature Genet., 5: 8-10.
    • (1993) Nature Genet. , vol.5 , pp. 8-10
    • Pulst, S.M.1    Nechiporuk, A.2    Starkman, S.3
  • 35
    • 0025887289 scopus 로고
    • Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p
    • Ranum, L.P.W., Duvick, L.A., Rich, S.S., Schut, L.J., Litt, M, Orr, T. (1991) Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p. Am. J. Hum. Genet., 49: 31-41.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 31-41
    • Ranum, L.P.W.1    Duvick, L.A.2    Rich, S.S.3    Schut, L.J.4    Litt, M.5    Orr, T.6
  • 37
    • 0023101629 scopus 로고
    • Somatosensory and brainstem auditory evoked potentials in neurodegenerative system disorders
    • Rossini, P., Cracco, J. (1987) Somatosensory and brainstem auditory evoked potentials in neurodegenerative system disorders. Eur. Neurol., 26: 176-188.
    • (1987) Eur. Neurol. , vol.26 , pp. 176-188
    • Rossini, P.1    Cracco, J.2
  • 39
    • 0000051759 scopus 로고
    • Hereditary ataxia: Clinical study through six generations
    • Schut, J.W. (1950) Hereditary ataxia: clinical study through six generations. Archives of Neurology and Psychiatry, 63: 535-568.
    • (1950) Archives of Neurology and Psychiatry , vol.63 , pp. 535-568
    • Schut, J.W.1
  • 40
    • 0017364389 scopus 로고
    • Ultrastructural studies of the dying-back process. IV. Differential vulnerability of PNS and CNS fibers in experimental central-peripheral distal axonopathies
    • Spencer, P.S. and Schaumburg, H.H. (1977) Ultrastructural studies of the dying-back process. IV. Differential vulnerability of PNS and CNS fibers in experimental central-peripheral distal axonopathies. J. Neuropathol. Exp. Neurol., 36: 300-320.
    • (1977) J. Neuropathol. Exp. Neurol. , vol.36 , pp. 300-320
    • Spencer, P.S.1    Schaumburg, H.H.2
  • 41
    • 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. (1994) 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., 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
  • 43
    • 0023165002 scopus 로고
    • Strumpell's familial spastic paraplegia: An electrophysiological demonstration of selective central distal axonopathy
    • Uncini, A., Treviso, M., Basciani, M., Gambi, D. (1987) Strumpell's familial spastic paraplegia: an electrophysiological demonstration of selective central distal axonopathy. Electroenceph. Clin. Neurophysiol., 66: 132-136.
    • (1987) Electroenceph. Clin. Neurophysiol. , vol.66 , pp. 132-136
    • Uncini, A.1    Treviso, M.2    Basciani, M.3    Gambi, D.4
  • 47
    • 0023875234 scopus 로고
    • Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred
    • Zoghbi, H.Y., Pollack, M.S., Lyons, L.A., Ferrell, R.E., Daiger, S.P., Beaudet, A.L. (1988) Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann. Neurol., 23: 580-584.
    • (1988) Ann. Neurol. , vol.23 , pp. 580-584
    • Zoghbi, H.Y.1    Pollack, M.S.2    Lyons, L.A.3    Ferrell, R.E.4    Daiger, S.P.5    Beaudet, A.L.6


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