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Volumn 14, Issue 6, 1999, Pages 659-664

Spinocerebellar ataxia type 2 in seven Korean families: CAG trinucleotide expansion and clinical characteristics

Author keywords

Cerebellar ataxia; Cerebral angiography; Spinocerebellar degeneration

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BLOOD; BRAIN; FEMALE; GENETICS; HUMAN; KOREA; LYMPHOCYTE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOLOGY; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

EID: 0033254212     PISSN: 10118934     EISSN: None     Source Type: Journal    
DOI: 10.3346/jkms.1999.14.6.659     Document Type: Article
Times cited : (10)

References (31)
  • 1
    • 0027342814 scopus 로고
    • Clinical features and classification of inherited ataxias
    • Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993; 61: 1-14.
    • (1993) Adv Neurol , vol.61 , pp. 1-14
    • Harding, A.E.1
  • 8
    • 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, Kaplan C, Ptacek LJ. 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    Kaplan, C.7    Ptacek, L.J.8
  • 9
    • 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. Nature Genet 1994; 8: 280-4.
    • (1994) Nature 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
  • 15
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research 1988; 16: 1215.
    • (1988) Nucleic Acids Research , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 17
    • 0030944114 scopus 로고    scopus 로고
    • The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinuicleotide repeat in patients with autosomal dominant cerebellar ataxia
    • Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinuicleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997; 60: 842-50.
    • (1997) Am J Hum Genet , vol.60 , pp. 842-850
    • Geschwind, D.H.1    Perlman, S.2    Figueroa, C.P.3    Treiman, L.J.4    Pulst, S.M.5
  • 20
    • 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
  • 23
    • 0032053896 scopus 로고    scopus 로고
    • Analysis of spinocerebellar ataxia type 2 in Gunma Prefecture in Japan: CAG trinucleotide expansion and clinical characteristics
    • Mizushima K, Watanabe M, Abe K, Aoki M, Itoyama Y, Shizuka M, Okamoto K, Shoji M. Analysis of spinocerebellar ataxia type 2 in Gunma Prefecture in Japan: CAG trinucleotide expansion and clinical characteristics. J Neurol Sci 1998; 156: 180-5.
    • (1998) J Neurol Sci , vol.156 , pp. 180-185
    • Mizushima, K.1    Watanabe, M.2    Abe, K.3    Aoki, M.4    Itoyama, Y.5    Shizuka, M.6    Okamoto, K.7    Shoji, M.8
  • 26
    • 0030200658 scopus 로고    scopus 로고
    • The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease
    • Matsumura R, Takayanagi T, Fujimoto Y, Murata K, Mano Y, Horikawa H, Chuma T. The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease. J Neurol Sci 1996; 139: 52-7.
    • (1996) J Neurol Sci , vol.139 , pp. 52-57
    • Matsumura, R.1    Takayanagi, T.2    Fujimoto, Y.3    Murata, K.4    Mano, Y.5    Horikawa, H.6    Chuma, T.7
  • 28
    • 0024997225 scopus 로고
    • Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba
    • Diaz GO, Fleites AN, Sagaz RC, Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 1990; 40: 1369-75.
    • (1990) Neurology , vol.40 , pp. 1369-1375
    • Diaz, G.O.1    Fleites, A.N.2    Sagaz, R.C.3    Auburger, G.4
  • 29
    • 0030449316 scopus 로고    scopus 로고
    • Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2) clinical and genetic study with a pedigree in the Japanese
    • Sasaki H, Fukazawa, T, Wakisaka A, Hamada K, Hamada T, Koyama T, Tsuji S, Tashiro K. Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2) clinical and genetic study with a pedigree in the Japanese. J Neurol Sci 1996; 144: 176-81.
    • (1996) J Neurol Sci , vol.144 , pp. 176-181
    • Sasaki, H.1    Fukazawa, T.2    Wakisaka, A.3    Hamada, K.4    Hamada, T.5    Koyama, T.6    Tsuji, S.7    Tashiro, K.8
  • 30
    • 0014998732 scopus 로고
    • A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families)
    • Wadia NH, Swami RK. A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families). Brain 1971; 94: 359-74.
    • (1971) Brain , vol.94 , pp. 359-374
    • Wadia, N.H.1    Swami, R.K.2
  • 31
    • 0028141691 scopus 로고
    • A clinical and pathological 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, Tsuji S, Mizuno Y, Nishizawa M. A clinical and pathological 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    Tsuji, S.7    Mizuno, Y.8    Nishizawa, M.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.