메뉴 건너뛰기




Volumn 155, Issue 4, 1999, Pages 255-270

Autosomal dominant spinocerebellar degenerations. Clinical, pathological, and genetic correlations

Author keywords

[No Author keywords available]

Indexed keywords

ATROPHY; CEREBELLUM; CULTURE TECHNIQUE; DENTATE GYRUS; GENETICS; HUMAN; NERVE CELL; PATHOLOGY; REVIEW; SPINOCEREBELLAR DEGENERATION;

EID: 0033111229     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (88)

References (134)
  • 1
    • 0000255051 scopus 로고
    • White matter damage in dentatorubropallidoluysian atrophy; a radiological and neuropathological study
    • ARAI K. (1995). White matter damage in dentatorubropallidoluysian atrophy; a radiological and neuropathological study. Neuropathology, 15:154-162.
    • (1995) Neuropathology , vol.15 , pp. 154-162
    • Arai, K.1
  • 2
    • 33744866273 scopus 로고
    • Degeneration of the basal ganglia associated with olivo-ponto-cerebellar atrophy
    • ARING C.D. (1940). Degeneration of the basal ganglia associated with olivo-ponto-cerebellar atrophy. J Nerv Ment Dis, 92: 448-470.
    • (1940) J Nerv Ment Dis , vol.92 , pp. 448-470
    • Aring, C.D.1
  • 3
    • 0014458428 scopus 로고
    • Spino-pontine degeneration
    • BOLLER F., SEGARRA J.M. (1969). Spino-pontine degeneration. Eur Neurol, 2:356-373.
    • (1969) Eur Neurol , vol.2 , pp. 356-373
    • Boller, F.1    Segarra, J.M.2
  • 7
    • 0001689838 scopus 로고
    • On hereditary ataxy, with a series of twenty-one cases
    • BROWN S. (1892). On hereditary ataxy, with a series of twenty-one cases. Brain, 15:250-282.
    • (1892) Brain , vol.15 , pp. 250-282
    • Brown, S.1
  • 8
    • 0028124225 scopus 로고
    • Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
    • BROWNE D.L., GANCHER ST., NUTT J.G. et al. (1994). Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet, 8:136-140.
    • (1994) Nat Genet , vol.8 , pp. 136-140
    • Browne, D.L.1    Gancher, S.T.2    Nutt, J.G.3
  • 9
    • 0028169738 scopus 로고
    • Dentatorubral pallidoluysian atrophy (DRPLA) in an African-American family
    • BURKE J.R., WINGFIELD M.S., LEWIS K.E. et al. (1994). Dentatorubral pallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet, 7:521-524.
    • (1994) Nat Genet , vol.7 , pp. 521-524
    • Burke, J.R.1    Wingfield, M.S.2    Lewis, K.E.3
  • 12
    • 0013873415 scopus 로고
    • Familial infantile cerebellar atrophy associated with retinal degeneration
    • CARPENTER C.S., SCHUMACHER A. (1966). Familial infantile cerebellar atrophy associated with retinal degeneration. Arch Neurol, 14: 82-94.
    • (1966) Arch Neurol , vol.14 , pp. 82-94
    • Carpenter, C.S.1    Schumacher, A.2
  • 14
    • 0031838352 scopus 로고    scopus 로고
    • Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1
    • CUMMINGS C.J., MANCINI M.A., ANTALFFY B., DEFRANCO D.B., ORR H.T., ZOGHBI H.Y. (1998). Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet, 19:148-154.
    • (1998) Nat Genet , vol.19 , pp. 148-154
    • Cummings, C.J.1    Mancini, M.A.2    Antalffy, B.3    Defranco, D.B.4    Orr, H.T.5    Zoghbi, H.Y.6
  • 16
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    • DAVID G., ABBAS N., STEVANIN G. et al. (1997). Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet, 77:65-70.
    • (1997) Nat Genet , vol.77 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3
  • 17
    • 18544410106 scopus 로고    scopus 로고
    • Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
    • DAVIES S.W., TURMAINE M., COZENS B.A. et al. (1997). Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Neuron, 90: 537-548.
    • (1997) Neuron , vol.90 , pp. 537-548
    • Davies, S.W.1    Turmaine, M.2    Cozens, B.A.3
  • 20
    • 0030752709 scopus 로고    scopus 로고
    • Aggregation of Huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
    • DIFIGLIA M., SAPP E., CHASE K.O., et al. (1997). Aggregation of Huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science, 277:1990-1993.
    • (1997) Science , vol.277 , pp. 1990-1993
    • Difiglia, M.1    Sapp, E.2    Chase, K.O.3
  • 21
    • 0029611008 scopus 로고
    • Autosomal dominant cerebellar ataxia type 1 in Martinique (French West Indies)
    • DÜRR A., SMADJA D., CANCEL G., et al. (1995). Autosomal dominant cerebellar ataxia type 1 in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain, 118:1573-1581.
    • (1995) Clinical and Neuropathological Analysis of , vol.53 , pp. 1573-1581
    • Dürr, A.1    Smadja, D.2    Cancel, G.3
  • 25
    • 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. et al. (1996). Autosomal dominant Spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet, 59:392-399.
    • (1996) Am J Hum Genet , vol.59 , pp. 392-399
    • Flanigan, K.1    Gardner, K.2    Alderson, K.3
  • 26
    • 84866816430 scopus 로고
    • Les lésions médullaires au cours de l'hérédo-ataxie cérébelleuse de la maladie de Friedreich et de la paraplégie spastique familiale
    • Foix C., TRéTIAKOFF C. (1920). Les lésions médullaires au cours de l'hérédo-ataxie cérébelleuse de la maladie de Friedreich et de la paraplégie spastique familiale. Bull Mem Soc Med Hop Paris, 44:1140-1151.
    • (1920) Bull Mem Soc Med Hop Paris , vol.44 , pp. 1140-1151
    • Foix, C.1    Trétiakoff, C.2
  • 30
    • 0027162192 scopus 로고
    • Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
    • GISPERT S., TWELLS R., ORONZCO G., et al. (1993). Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. War Genet, 4: 295-299.
    • (1993) War Genet , vol.4 , pp. 295-299
    • Gispert, S.1    Twells, R.2    Oronzco, G.3
  • 31
    • 0020334692 scopus 로고
    • Dentatorubro-pallidoluysian degeneration: Clinical, neuro-ophthalmologic, biochemical, and pathologic studies on autosomal dominant form
    • GOTO I., TOBIMATSU S, OHTA M. eraJ. (1982). Dentatorubro-pallidoluysian degeneration: clinical, neuro-ophthalmologic, biochemical, and pathologic studies on autosomal dominant form. Neurology, 32:1395-1399.
    • (1982) Neurology , vol.32 , pp. 1395-1399
    • Goto, I.1    Tobimatsu, S.2    Ohta, M.3
  • 32
    • 15144351709 scopus 로고    scopus 로고
    • Differential distribution of the normal and mutated forms of huntingtin in the human brain
    • GOURFINKEL-AN I., CANCEL G., TrorriER Y. et al. (1997). Differential distribution of the normal and mutated forms of huntingtin in the human brain. Ann Neurol, 47:713-719.
    • (1997) Ann Neurol , vol.47 , pp. 713-719
    • Gourfinkel-An, I.1    Cancel, G.2    Trorrier, Y.3
  • 33
    • 0032102186 scopus 로고    scopus 로고
    • Neuronal distribution of intranuclear inclusions in Huntington's disease with adult onset
    • GOURFINKEL-AN I., CANCEL G., DUYCKAERTS C., et al. (1998). Neuronal distribution of intranuclear inclusions in Huntington's disease with adult onset. Neuro Report, 9:1823-1836.
    • (1998) Neuro Report , vol.9 , pp. 1823-1836
    • Gourfinkel-An, I.1    Cancel, G.2    Duyckaerts, C.3
  • 35
    • 0029048660 scopus 로고
    • Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p
    • Gouw LG., KAPLAN C.D., HAINES J.H., et al. (1995). Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet, 10:89-93.
    • (1995) Nat Genet , vol.10 , pp. 89-93
    • Gouw, L.G.1    Kaplan, C.D.2    Haines, J.H.3
  • 36
    • 8544245749 scopus 로고
    • Marie's hereditary cerebellar ataxia (olivopontocerebellar atrophy)
    • GRAY R.C., OLIVER C.P. (1941). Marie's hereditary cerebellar ataxia (olivopontocerebellar atrophy). Minn Med, 24:327-335.
    • (1941) Minn Med , vol.24 , pp. 327-335
    • Gray, R.C.1    Oliver, C.P.2
  • 38
    • 2442575349 scopus 로고
    • Étude anatomique d'un cas d'hérédo-ataxie cérébelleuse
    • GUILLAIN G., BERTRAND I., GODET-Guillain J. (1941). Étude anatomique d'un cas d'hérédo-ataxie cérébelleuse. Rev Neurol (Paris), 73:609-611.
    • (1941) Rev Neurol (Paris) , vol.73 , pp. 609-611
    • Guillain, G.1    Bertrand, I.2    Godet-Guillain, J.3
  • 39
    • 0029858011 scopus 로고    scopus 로고
    • The inherited ataxias and the new genetics
    • HAMMANS S.R. (1996). The inherited ataxias and the new genetics. J Neurol Neurosurg Psychiatry, 61:327-332.
    • (1996) J Neurol Neurosurg Psychiatry , vol.61 , pp. 327-332
    • Hammans, S.R.1
  • 40
    • 0019902437 scopus 로고
    • The clinical features and classification of the late onset dominant cerebellar ataxias: A study of eleven families including descendants of the "Drew family of Walworth"
    • HARDING A. (1982). The clinical features and classification of the late onset dominant cerebellar ataxias: a study of eleven families including descendants of the "Drew family of Walworth". Brain, 105:1-28.
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.1
  • 41
    • 0020641096 scopus 로고
    • Classification of the hereditary ataxias and paraplegias
    • HARDING A. (1983). Classification of the hereditary ataxias and paraplegias. Lancet, i: 1151-1155.
    • (1983) Lancet, I , pp. 1151-1155
    • Harding, A.1
  • 43
    • 0032065807 scopus 로고    scopus 로고
    • Hereditary dentatorubral-pallidoluysian atrophy (DRPLA): Ubiquitinated filamen-tous inclusions in the cerebellar dentate nucleus neurons
    • HAYASHI Y., KAKITA A., YAMADA M., et al. (1998). Hereditary dentatorubral-pallidoluysian atrophy (DRPLA): ubiquitinated filamen-tous inclusions in the cerebellar dentate nucleus neurons. Acta Neuropathol, 95:333-337.
    • (1998) Acta Neuropathol , vol.95 , pp. 333-337
    • Hayashi, Y.1    Kakita, A.2    Yamada, M.3
  • 44
    • 0029991809 scopus 로고    scopus 로고
    • Mutations in American families with spinocerebellar ataxia (SCA) type 3
    • HIGGINS J.J., NEE LE., VASCONCELOS O., et al. (1996). Mutations in American families with spinocerebellar ataxia (SCA) type 3. SCA3 is allelic to Machado-Joseph disease. Neurology, 46:208-213.
    • (1996) SCA , vol.3 , pp. 208-213
    • Higgins, J.J.1    Nee, L.E.2    Vasconcelos, O.3
  • 45
    • 0029117960 scopus 로고
    • Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1
    • HOLMBERG M., JOHANSSON J., FORSCHEN L., HEIJBEL J., SANDGREN O., HOLMGREN G. (1995). Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Gen, 4: 1441-1445.
    • (1995) Hum Mol Gen , vol.4 , pp. 1441-1445
    • Holmberg, M.1    Johansson, J.2    Forschen, L.3    Heijbel, J.4    Sandgren, O.5    Holmgren, G.6
  • 47
    • 77957188127 scopus 로고
    • A form of familial degeneration of the cerebellum
    • HOLMES G. (1907a). A form of familial degeneration of the cerebellum. Brain, 30:466-489.
    • (1907) Brain , vol.30 , pp. 466-489
    • Holmes, G.1
  • 48
    • 0000834705 scopus 로고
    • An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia
    • HOLMES G. (1907b). An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia. Brain, 30: 545-567.
    • (1907) Brain , vol.30 , pp. 545-567
    • Holmes, G.1
  • 50
    • 17344362229 scopus 로고    scopus 로고
    • Supression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded plyglutamine stretch
    • IGARASHI S., KOIDE R., SHIMOHATA T., et al. (1998). Supression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded plyglutamine stretch. Nat Genet, 18:111-117.
    • (1998) Nat Genet , vol.18 , pp. 111-117
    • Igarashi, S.1    Koide, R.2    Shimohata, T.3
  • 52
    • 0010748954 scopus 로고
    • Peculiar forms of familial olivo-ponto-cerebellar atrophy (Menzel type) and Joseph disease; clinico-neuropathological study of two families with nosological considerations
    • IKEDA T. (1987). Peculiar forms of familial olivo-ponto-cerebellar atrophy (Menzel type) and Joseph disease; clinico-neuropathological study of two families with nosological considerations. Psychiat NeurolJpn, 89. 245-281.
    • (1987) Psychiat NeurolJpn , vol.89 , pp. 245-281
    • Ikeda, T.1
  • 53
    • 0031442152 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6: CAG repeart expansion in a,A voltage-dependent calcium channel gene and clinical variations in Japanese population
    • IKEUCHI T., TAKANO H., KOIDE R., et al. (1998). Spinocerebellar ataxia type 6: CAG repeart expansion in a,A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol, 42: 879-884.
    • (1998) Ann Neurol , vol.42 , pp. 879-884
    • Ikeuchi, T.1    Takano, H.2    Koide, R.3
  • 54
    • 0030294345 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., et al. (1993). Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Waf Genet, 14:285-291.
    • (1993) Waf Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3
  • 56
    • 8044241783 scopus 로고
    • A clinicopathological study on autosomal dominant hereditary olivo-pontocerebellar atrophy of which gene locus does not exist on chromosome 6p
    • IWABUCHI K., YAGISHITA S., ANDOH M., et al. (1993a). A clinicopathological study on autosomal dominant hereditary olivo-pontocerebellar atrophy of which gene locus does not exist on chromosome 6p. Menzel's disease. Shinkei Kenkyu no Shinpo (Adv Neurol Sci), 37:307-323. (in Japanese)
    • (1993) Menzel's Disease. Shinkei Kenkyu No Shinpo (Adv Neurol Sci) , vol.37 , pp. 307-323
    • Iwabuchi, K.1    Yagishita, S.2    Andoh, M.3
  • 57
    • 0000950122 scopus 로고
    • A clinicopathological study on autosomal dominant hereditary dentatorubropallidoluysian atrophy (Naitoh-Oyanagi's disease)
    • IWABUCHI K., YAGISHITA S., AMANO N., et al. (1993b). A clinicopathological study on autosomal dominant hereditary dentatorubropallidoluysian atrophy (Naitoh-Oyanagi's disease). Shinkei Kenkyu no Shinpo (Adv Neurol Sci), 37: 687-692. (in Japanese)
    • (1993) Shinkei Kenkyu No Shinpo (Adv Neurol Sci) , vol.37 , pp. 687-692
    • Iwabuchi, K.1    Yagishita, S.2    Amano, N.3
  • 59
    • 84895296455 scopus 로고
    • Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia
    • JAMPEL R.S., OKAZAKI H., BERNSTEIN H. (1961). Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia. Arch Ophthal, 66:247-259.
    • (1961) Arch Ophthal , vol.66 , pp. 247-259
    • Jampel, R.S.1    Okazaki, H.2    Bernstein, H.3
  • 60
    • 0029049256 scopus 로고
    • Analysis of spinocerebellar ataxia type 1 (SCAI)-related CAG trinucleotide expansion in Japan
    • KAMEYA T., ABE K., AOKI M. et al. (1995). Analysis of spinocerebellar ataxia type 1 (SCAI)-related CAG trinucleotide expansion in Japan. Neurology, 45:1587-1594.
    • (1995) Neurology , vol.45 , pp. 1587-1594
    • Kameya, T.1    Abe, K.2    Aoki, M.3
  • 62
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q.32.1
    • KAWAGUCHI Y., OKAMOTO T., TANIKAWA M., et al. (1994). CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q.32.1. Nat Genet, 8: 221-228.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Tanikawa, M.3
  • 63
    • 33744872357 scopus 로고
    • Four cases of olivo-ponto-cerebellar atrophy giving a history of heredity with three autopsies
    • KEILLER W. (1926). Four cases of olivo-ponto-cerebellar atrophy giving a history of heredity with three autopsies. South Med J, 19: 518-522.
    • (1926) South Med J , vol.19 , pp. 518-522
    • Keiller, W.1
  • 64
    • 0346448356 scopus 로고
    • Contribution à l'étude des affections nerveuses familiales et héréditaires
    • KLIPPEL M., DURANTE G. (1892). Contribution à l'étude des affections nerveuses familiales et héréditaires. Revue de Médecine, 12: 745-785.
    • (1892) Revue De Médecine , vol.12 , pp. 745-785
    • Klippel, M.1    Durante, G.2
  • 65
    • 0017155726 scopus 로고
    • Supranuclear ophthalmoplegia in olivopontocerebellar degeneration
    • KOEPPEN A.H., HANS M.B. (1976). Supranuclear ophthalmoplegia in olivopontocerebellar degeneration. Neurology, 26:764-768.
    • (1976) Neurology , vol.26 , pp. 764-768
    • Koeppen, A.H.1    Hans, M.B.2
  • 68
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubropallidoluysian atorphy (DRPLA)
    • KOIDE R., IKEUCHI T., ONODERA O. et al. (1994). Unstable expansion of CAG repeat in hereditary dentatorubropallidoluysian atorphy (DRPLA). Nat Genet, 6: 9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 70
    • 16144363213 scopus 로고    scopus 로고
    • An expanded CAG repeat sequence in spinocerebellar ataxia type 7
    • LINDBLAD K., SAVONTAUS M.L., STEVANIN G. eraJ. (1996). An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res, 6: 965-71.
    • (1996) Genome Res , vol.6 , pp. 965-971
    • Lindblad, K.1    Savontaus, M.L.2    Eraj, S.G.3
  • 71
    • 84866811765 scopus 로고
    • A case of cerebellar ataxia, with a discussion of classification
    • LOCKE S., FOLLEY Ü.M. (1960). A case of cerebellar ataxia, with a discussion of classification. Arch Neurol (Chicago), 3:279-289.
    • (1960) Arch Neurol (Chicago) , vol.3 , pp. 279-289
    • Locke, S.1    Folley, Ü.M.2
  • 73
    • 0000223839 scopus 로고
    • Sur l'hérédoataxie cérébelleuse
    • MARIE P. (1893). Sur l'hérédoataxie cérébelleuse. Semaine de Médecine (Paris), 13:444-447.
    • (1893) Semaine De Médecine (Paris) , vol.13 , pp. 444-447
    • Marie, P.1
  • 74
    • 2442627116 scopus 로고
    • Lésions médullaires dans quatre cas d'hérédoataxie cérébelleuse
    • MARIE P., Foix C. (1914). Lésions médullaires dans quatre cas d'hérédoataxie cérébelleuse. Rev Neurol (Paris) , 27:797-799.
    • (1914) Rev Neurol (Paris) , vol.27 , pp. 797-799
    • Marie, P.1    Foix, C.2
  • 75
    • 0001614829 scopus 로고
    • De l'atrophie cérébelleuse tardive àprédominance corticale
    • MARIE P., FOIX C., ALAJOUANINE T. (1922). De l'atrophie cérébelleuse tardive àprédominance corticale. Rev Neurol (Paris), 2: 849-885.
    • (1922) Rev Neurol (Paris) , vol.2 , pp. 849-885
    • Marie, P.1    Foix, C.2    Alajouanine, T.3
  • 76
    • 0028067442 scopus 로고
    • On an autosomal dominant form of retinal-cerebellar degeneration: An autopsy study of five patients in one family
    • MARTIN J.-J., VAN REGEMORTER N., Krols L. et al. (1994). On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family. Acta Neuropathol, 88:277-286.
    • (1994) Acta Neuropathol , vol.88 , pp. 277-286
    • Martin, J.-J.1    Van Regemorter, N.2    Krols, L.3
  • 77
    • 33744869848 scopus 로고
    • On the lesions of cerebellifugal tracts and basal ganglia in hereditary ataxia: A comparative study with olivopontocerebellar atrophy
    • MATSUBARA R. (1983). On the lesions of cerebellifugal tracts and basal ganglia in hereditary ataxia: a comparative study with olivopontocerebellar atrophy. J Juzen Med Soc, 92: 208-236.
    • (1983) J Juzen Med Soc , vol.92 , pp. 208-236
    • Matsubara, R.1
  • 78
    • 0030679611 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6
    • MATSUMURA R., FUTAMURA N., FUJIMOTO Y., eraJ. (1997). Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology, 49:1238-1243.
    • (1997) Molecular and Clinical Features of , vol.35 , pp. 1238-1243
    • Matsumura, R.1    Futamura, N.2    Fujimoto, Y.3
  • 79
    • 34250575453 scopus 로고
    • Beitrag zur Kenntniss der hereditären Ataxie und Kleinhirnatrophie
    • MENZEL P. (1891). Beitrag zur Kenntniss der hereditären Ataxie und Kleinhirnatrophie. Archiv für Psychiatrie und Nervenkrankheiten, 22:160-190.
    • (1891) Archiv Für Psychiatrie Und Nervenkrankheiten , vol.22 , pp. 160-190
    • Menzel, P.1
  • 80
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy, expansion of an unstable CAG trinucleotide on chromosome 12p
    • NAGAFUCHI S., YANAGISAWA H., SATO K., et al. (1994). Dentatorubral and pallidoluysian atrophy, expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet, 6:14-18.
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3
  • 82
    • 0015445908 scopus 로고
    • Two families with dominant hereditary progressive myoclonus epilepsy
    • NAITO H., IZAWA K., KUROSAKI T., KAJI S., SAWA M. (1972). Two families with dominant hereditary progressive myoclonus epilepsy. Psychiat Neurol Jpn, 74:871-897.
    • (1972) Psychiat Neurol Jpn , vol.74 , pp. 871-897
    • Naito, H.1    Izawa, K.2    Kurosaki, T.3    Kaji, S.4    Sawa, M.5
  • 84
    • 8544258863 scopus 로고
    • Combined degeneration of globus pallidus and dentate nucleus and their projections
    • Neumann M.A. (1959). Combined degeneration of globus pallidus and dentate nucleus and their projections. Neurology, 9: 403-438.
    • (1959) Neurology , vol.9 , pp. 403-438
    • Neumann, M.A.1
  • 85
    • 0017467892 scopus 로고
    • Striatonigral degeneration disputed in familial disorder
    • NIELSEN S.L. (1977). Striatonigral degeneration disputed in familial disorder. Neurology (Minneap.), 27:306. (Letter)
    • (1977) Neurology (Minneap.) , vol.27 , pp. 306
    • Nielsen, S.L.1
  • 88
    • 0024997225 scopus 로고
    • Autosomal dominant cerebellar ataxia
    • OROZCO G., FLEITES A.N., SAGAZ R.C., AUBURGER G. (1990). Autosomal dominant cerebellar ataxia. Clinical analysis of 263 patients from a homogeneous population in Holgiun, Cuba. Neurology, 40: 1369-1375.
    • (1990) Clinical Analysis of , vol.263 , pp. 1369-1375
    • Orozco, G.1    Fleites, A.N.2    Sagaz, R.C.3    Auburger, G.4
  • 89
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • ORR H.T., CHUN M., BANFI S., et al. (1993). Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet, 4:221-226.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chun, M.2    Banfi, S.3
  • 90
    • 0017324843 scopus 로고
    • A clinical and neuropathological study on four autopsy cases of degenerative type of myoclonus epilepsy with Mendelian dominant heredity
    • OYANAGI S., NAITO H. (1977). A clinical and neuropathological study on four autopsy cases of degenerative type of myoclonus epilepsy with Mendelian dominant heredity. Psychiat Neurol Jpn, 79:113-129.
    • (1977) Psychiat Neurol Jpn , vol.79 , pp. 113-129
    • Oyanagi, S.1    Naito, H.2
  • 91
    • 0030850412 scopus 로고    scopus 로고
    • Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
    • PAULSON H.L., PEREZ M.K., TROTTIER Y., et al. (1997). Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron, 19:333-344.
    • (1997) Neuron , vol.19 , pp. 333-344
    • Paulson, H.L.1    Perez, M.K.2    Trottier, Y.3
  • 93
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • PULST S.M., NECHIPORUK A., NECHIPORUK T., et al. (1996). Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet, 14: 269-276.
    • (1996) Nat Genet , vol.14 , pp. 269-276
    • Pulst, S.M.1    Nechiporuk, A.2    Nechiporuk, T.3
  • 94
    • 0028020605 scopus 로고
    • Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
    • RANUM L.P., SCHUT L.J., LUNDGREN U.K., ORR H.T., LIVINGSTON D.M. (1994). Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet, 8:221-228.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Ranum, L.P.1    Schut, L.J.2    Lundgren, U.K.3    Orr, H.T.4    Livingston, D.M.5
  • 97
    • 0020508579 scopus 로고
    • Menzel's hereditary ataxia with slow eye movement and myoclonus
    • RONDOT P., DE RECONDO J., DAVOUS P., VEDRENNE C. (1983). Menzel's hereditary ataxia with slow eye movement and myoclonus. J Neurol Sci, 61:65-80.
    • (1983) J Neurol Sci , vol.61 , pp. 65-80
    • Rondot, P.1    De Recondo, J.2    Davous, P.3    Vedrenne, C.4
  • 99
    • 2442475839 scopus 로고
    • Sur l'anatomie pathologique d'une forme d'hérédo-ataxie cérébelleuse
    • RYDEL A. (1904). Sur l'anatomie pathologique d'une forme d'hérédo-ataxie cérébelleuse. Nouvelle Iconographie de la Salpêtrière, 17:289-303.
    • (1904) Nouvelle Iconographie De La Salpêtrière , vol.17 , pp. 289-303
    • Rydel, A.1
  • 100
    • 0020691438 scopus 로고
    • Joseph disease in a non-Portuguese family
    • SAKAI T., OHTA M., ISHINO H. (1983). Joseph disease in a non-Portuguese family. Neurology (Ny), 33:74-80.
    • (1983) Neurology (Ny) , vol.33 , pp. 74-80
    • Sakai, T.1    Ohta, M.2    Ishino, H.3
  • 101
    • 0029981268 scopus 로고    scopus 로고
    • A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy
    • SAKAI T., ANTOKU Y., KAWAKAMI H. et al. (1996). A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy. Neurology, 46:1154-1156.
    • (1996) Neurology , vol.46 , pp. 1154-1156
    • Sakai, T.1    Antoku, Y.2    Kawakami, H.3
  • 102
    • 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., IGARASHIS., et al. (1996). Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet, 14:277-284.
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3
  • 103
    • 0031883338 scopus 로고    scopus 로고
    • Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6)
    • SASAKI H., KOJIMA H., YABE I., et al. (1998). Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6). Acta Neuropathol, 95:199-204.
    • (1998) Acta Neuropathol , vol.95 , pp. 199-204
    • Sasaki, H.1    Kojima, H.2    Yabe, I.3
  • 104
    • 0032516918 scopus 로고    scopus 로고
    • Phenotype variation correlates with CAG repeat length in SCA2
    • SASAKI H., WAKISAKA A., SANPEI K., et al. (1998). Phenotype variation correlates with CAG repeat length in SCA2. A study of 28 Japanese patients. J Neurol Sci, 159:202-208.
    • (1998) A Study of , vol.28 , pp. 202-208
    • Sasaki, H.1    Wakisaka, A.2    Sanpei, K.3
  • 105
    • 0000051759 scopus 로고
    • Hereditary ataxia: Clinical study though six generations
    • SCHUT J.W. (1950). Hereditary ataxia: clinical study though six generations. Arch Neurol Psychiatry (Chicago), 63: 535-568.
    • (1950) Arch Neurol Psychiatry (Chicago) , vol.63 , pp. 535-568
    • Schut, J.W.1
  • 106
    • 84948009382 scopus 로고
    • Hereditary ataxia: A pathologic study of five cases of common ancestry
    • SCHUT J.W., HAYMAKER W. (1951). Hereditary ataxia: a pathologic study of five cases of common ancestry. J Neuropathol Clin Neurol, 1:183-213.
    • (1951) J Neuropathol Clin Neurol , vol.1 , pp. 183-213
    • Schut, J.W.1    Haymaker, W.2
  • 107
    • 9344245162 scopus 로고    scopus 로고
    • Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
    • SILVEIRA I., PHARM D., LOPES-CENDES I., et al (1996). Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology, 46:214-218.
    • (1996) Neurology , vol.46 , pp. 214-218
    • Silveira, I.1    Pharm, D.2    Lopes-Cendes, I.3
  • 108
    • 0030666001 scopus 로고    scopus 로고
    • Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
    • SKINNER P.J., KOSHY B.T., CUMMINGS C.J., et al. (1997). Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature, 389: 971-978.
    • (1997) Nature , vol.389 , pp. 971-978
    • Skinner, P.J.1    Koshy, B.T.2    Cummings, C.J.3
  • 112
    • 0343416801 scopus 로고    scopus 로고
    • Clinical and molecular features of spinocerebellar ataxia type 6
    • STEVANIN G., DÛRR A., David G., et al. (1997). Clinical and molecular features of spinocerebellar ataxia type 6. Neurology, 49:1243-1246.
    • (1997) Neurology , vol.49 , pp. 1243-1246
    • Stevanin, G.1    Dûrr, A.2    David, G.3
  • 113
    • 0029882009 scopus 로고    scopus 로고
    • Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-1, Machado-Joseph disease, or dentato-rubro-pallido-Luysian atrophy locus
    • SUBRAMONY S.H., FRATKIN J.D., MANYAM B.V., CURRIER R.D. (1996). Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-1, Machado-Joseph disease, or dentato-rubro-pallido-Luysian atrophy locus. Mov Dis, 11:174-180.
    • (1996) Mov Dis , vol.11 , pp. 174-180
    • Subramony, S.H.1    Fratkin, J.D.2    Manyam, B.V.3    Currier, R.D.4
  • 114
    • 0027537601 scopus 로고
    • Ubiquitin-immunoreactive inclusions in anterior horn cells and hypoglossal neurons in a case with Joseph's disease
    • SUENAGA T., MATSUSHIMA H., NAKAMURA S., AKIGUCHI I., KIMURA J. (1993). Ubiquitin-immunoreactive inclusions in anterior horn cells and hypoglossal neurons in a case with Joseph's disease. Acta Neuropathol, 85: 341-344.
    • (1993) Acta Neuropathol , vol.85 , pp. 341-344
    • Suenaga, T.1    Matsushima, H.2    Nakamura, S.3    Akiguchi, I.4    Kimura, J.5
  • 115
    • 2442488313 scopus 로고
    • Sur l'anatomie pathologique de l'hérédo-ataxie cérébelleuse
    • SWITALSKI. (1901). Sur l'anatomie pathologique de l'hérédo-ataxie cérébelleuse. Nouvelle Iconographie de la Salpêtrière, 14:373-387.
    • (1901) Nouvelle Iconographie De La Salpêtrière , vol.14 , pp. 373-387
    • Switalsk, I.1
  • 116
    • 0031934596 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6): Clinical, genetic and neuropathological study in a family
    • TAKAHASHI H., IKEUCHI T., HONMA Y., HAYASHI S., TSUJI S. (1998). Autosomal dominant cerebellar ataxia (SCA6): clinical, genetic and neuropathological study in a family. Acta Neuropathol, 95: 333-337.
    • (1998) Acta Neuropathol , vol.95 , pp. 333-337
    • Takahashi, H.1    Ikeuchi, T.2    Honma, Y.3    Hayashi, S.4    Tsuji, S.5
  • 117
    • 0027279503 scopus 로고
    • The gene for Machado-Joseph disease maps to chromosome 14q
    • TAKIYAMA Y., NISHIZAWA M., TANAKA H., et al. (1993). The gene for Machado-Joseph disease maps to chromosome 14q. Nat Genet, 4: 300-304.
    • (1993) Nat Genet , vol.4 , pp. 300-304
    • Takiyama, Y.1    Nishizawa, M.2    Tanaka, H.3
  • 118
    • 0028141691 scopus 로고
    • A clinical and pathologic study of a large Japanese family with MachadoJoseph disease tightly linked to the DNA markers on chromosome 14q
    • TAKIYAMA Y., OYANAGI S., KAWASHIMA S., et al. (1994). A clinical and pathologic study of a large Japanese family with MachadoJoseph disease tightly linked to the DNA markers on chromosome 14q. Neurology, 44:1302-1308.
    • (1994) Neurology , vol.44 , pp. 1302-1308
    • Takiyama, Y.1    Oyanagi, S.2    Kawashima, S.3
  • 119
    • 0029009456 scopus 로고
    • Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
    • TAKIYAMA Y., IGARASHI S., ROGAEVE E.A. et al. (1995). Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet, 4:1137-1146.
    • (1995) Hum Mol Genet , vol.4 , pp. 1137-1146
    • Takiyama, Y.1    Igarashi, S.2    Rogaeve, E.A.3
  • 121
    • 2442530265 scopus 로고
    • Sur une forme d'hérédo-ataxie cérébelleuse: A propos d'une observation suivie d'autopsie
    • THOMAS A., Roux J.C. (1901). Sur une forme d'hérédo-ataxie cérébelleuse: A propos d'une observation suivie d'autopsie. Rev Med, 21:762-792.
    • (1901) Rev Med , vol.21 , pp. 762-792
    • Thomas, A.1    Roux, J.C.2
  • 125
    • 0028963974 scopus 로고
    • A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p
    • VAHENDI K., JOUTEL A., VAN BOGAERT P., et al. (1995). A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol, 37: 289-293.
    • (1995) Ann Neurol , vol.37 , pp. 289-293
    • Vahendi, K.1    Joutel, A.2    Van Bogaert, P.3
  • 131
    • 0015412724 scopus 로고
    • Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
    • WOODS B.T., SCHAUMBURG H.H. (1972). Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. J Neurol Sci, 17: 149-166.
    • (1972) J Neurol Sci , vol.17 , pp. 149-166
    • Woods, B.T.1    Schaumburg, H.H.2
  • 134
    • 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. et al. (1997). Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet, 15:62-69.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.