메뉴 건너뛰기




Volumn 67, Issue 6, 1999, Pages 811-814

Dentatorubropallidoluysian atrophy in a Spanish family: A clinical, radiological, pathological, and genetic study

Author keywords

Dentatorubropallidoluysian atrophy; Genetics; Huntington's disease; Spinocerebellar ataxia

Indexed keywords

LIPOFUSCIN;

EID: 0032751030     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.67.6.811     Document Type: Article
Times cited : (38)

References (23)
  • 1
    • 0020064620 scopus 로고
    • Familial myoclonus epilepsy and choreoathetosis: Hereditary dentatorubral-pallidoluysian atrophy
    • Naito H, Oyanagi S. Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology 1992;32:798-807.
    • (1992) Neurology , vol.32 , pp. 798-807
    • Naito, H.1    Oyanagi, S.2
  • 2
    • 0023680089 scopus 로고
    • Hereditary dentotorubral-pallidoluysian atrophy: Clinical and pathologic variants in a family
    • Takahashi H, Ohama E, Naito H, et al. Hereditary dentotorubral-pallidoluysian atrophy: clinical and pathologic variants in a family. Neurology 1988;38:1065-70.
    • (1988) Neurology , vol.38 , pp. 1065-1070
    • Takahashi, H.1    Ohama, E.2    Naito, H.3
  • 3
    • 0031456508 scopus 로고    scopus 로고
    • Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings
    • Koide R, Onodera O, Ikeuchi T, et al. Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings. Neurology 1997;49:1605-12.
    • (1997) Neurology , vol.49 , pp. 1605-1612
    • Koide, R.1    Onodera, O.2    Ikeuchi, T.3
  • 5
    • 0028213984 scopus 로고
    • Autosomal-dominat dentatorubropallidoluysian atrophy in the United Kingdom
    • Warner TT, Lennox GG, Janota I, et al. Autosomal-dominat dentatorubropallidoluysian atrophy in the United Kingdom. Mov Disord 1994;9:289-96.
    • (1994) Mov Disord , vol.9 , pp. 289-296
    • Warner, T.T.1    Lennox, G.G.2    Janota, I.3
  • 6
    • 0028797080 scopus 로고
    • Molecular and clinical findings in a family with dentatorubralpallidoluysian atrophy
    • Potter NT, Meyer MA, Zimmerman AW, et al. Molecular and clinical findings in a family with dentatorubralpallidoluysian atrophy. Ann Neurol 1995;37:273-7.
    • (1995) Ann Neurol , vol.37 , pp. 273-277
    • Potter, N.T.1    Meyer, M.A.2    Zimmerman, A.W.3
  • 7
    • 0028169738 scopus 로고
    • The Haw River syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in a African-American family
    • Burke JR, Wingfield MS, Lewis KE, et al. The Haw River syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in a African-American family. Nat Genet 1994;7:521-4.
    • (1994) Nat Genet , vol.7 , pp. 521-524
    • Burke, J.R.1    Wingfield, M.S.2    Lewis, K.E.3
  • 8
    • 0029835728 scopus 로고    scopus 로고
    • Dentatorubralpallidoluysian atrophy. Clinical features of a five-generation Danish family
    • Nielsen JE, Sorensen K, Hasholt L, et al. Dentatorubralpallidoluysian atrophy. Clinical features of a five-generation Danish family. Mov Disord 1996;11:533-41
    • (1996) Mov Disord , vol.11 , pp. 533-541
    • Nielsen, J.E.1    Sorensen, K.2    Hasholt, L.3
  • 9
    • 0028216760 scopus 로고
    • Unstable expansion onf CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion onf CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994;6:9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 10
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of a unstable CAG trinucleotide on chromosome 12p
    • Nagafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of a unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994;6:14-8.
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3
  • 11
    • 85047678013 scopus 로고
    • Dentato-rubropallidoluysian atrophy: A clinico-pathological study
    • Iizuka R, Hirayama K, Maehara K. Dentato-rubropallidoluysian atrophy: a clinico-pathological study. J Neurol Neurosurg Psychiatry 1984;47:1288-98.
    • (1984) J Neurol Neurosurg Psychiatry , vol.47 , pp. 1288-1298
    • Iizuka, R.1    Hirayama, K.2    Maehara, K.3
  • 12
    • 0029053981 scopus 로고
    • Dentatorubralpallidoluysian atrophy (DRPLA): Clinical, genetic, and neuroradiologic studies in a family
    • Uyama E, Kondo I, Uchino M, et al. Dentatorubralpallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family. J Neurol Sci 1995;130: 146-53.
    • (1995) J Neurol Sci , vol.130 , pp. 146-153
    • Uyama, E.1    Kondo, I.2    Uchino, M.3
  • 13
    • 0029044667 scopus 로고
    • Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
    • Ikeuchi T, Koide R, Tanaka H, et al. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 1995;37:769-75.
    • (1995) Ann Neurol , vol.37 , pp. 769-775
    • Ikeuchi, T.1    Koide, R.2    Tanaka, H.3
  • 14
    • 0028815025 scopus 로고
    • DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
    • Komure O, Sano A, Nishino N, et al. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 1995;45:143-9.
    • (1995) Neurology , vol.45 , pp. 143-149
    • Komure, O.1    Sano, A.2    Nishino, N.3
  • 16
    • 0031702813 scopus 로고    scopus 로고
    • Fluid attenuation inversion recovery (FLAIR) images of dentatorubropallidoluysian atrophy: Case report
    • Yoshii F, Tomiyasu H, Shinohara Y. Fluid attenuation inversion recovery (FLAIR) images of dentatorubropallidoluysian atrophy: case report. J Neurol Neurosurg Psychiatry 1998;65:396-9.
    • (1998) J Neurol Neurosurg Psychiatry , vol.65 , pp. 396-399
    • Yoshii, F.1    Tomiyasu, H.2    Shinohara, Y.3
  • 17
    • 0016948811 scopus 로고
    • Chorée de Huntington et atrophie cérébelleuse (A propos d'une observation anatomo-clinique)
    • Castaigne P, Escourolle R, Gray MF. Chorée de Huntington et atrophie cérébelleuse (A propos d'une observation anatomo-clinique). Rev Neurol (Paris) 1976;132:233-40
    • (1976) Rev Neurol (Paris) , vol.132 , pp. 233-240
    • Castaigne, P.1    Escourolle, R.2    Gray, M.F.3
  • 18
    • 0019455846 scopus 로고
    • Cerebellar atrophy in Huntington's disease
    • Rodda RA. Cerebellar atrophy in Huntington's disease. J Neurol Sci 1981;50:147-57.
    • (1981) J Neurol Sci , vol.50 , pp. 147-157
    • Rodda, R.A.1
  • 19
    • 0030610409 scopus 로고    scopus 로고
    • Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees
    • Becher MW, Rubinsztein DC, Lego J, et al. Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees. Mov Disord 1997;12: 519-30.
    • (1997) Mov Disord , vol.12 , pp. 519-530
    • Becher, M.W.1    Rubinsztein, D.C.2    Lego, J.3
  • 20
    • 0020076144 scopus 로고
    • Olivopontocerebellar atrophy. A review of 117 cases
    • Berciano J. Olivopontocerebellar atrophy. A review of 117 cases. J Neurol Sci 1982;53:253-72.
    • (1982) J Neurol Sci , vol.53 , pp. 253-272
    • Berciano, J.1
  • 21
    • 2642589007 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?
    • Schöls L, Amoiridis G, Büttner T, et al. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?. Ann Neurol 1997;42:924-32.
    • (1997) Ann Neurol , vol.42 , pp. 924-932
    • Schöls, L.1    Amoiridis, G.2    Büttner, T.3
  • 22
    • 0027057677 scopus 로고
    • The lysosomal system in neurons. Involvement at multiple stages of Alzheimer's disease pathogenesis
    • Nixon RA, Cataldo AM, Paskevich PA, et al. The lysosomal system in neurons. Involvement at multiple stages of Alzheimer's disease pathogenesis. Ann N Y Acad Sci 1992; 674:65-88.
    • (1992) Ann N Y Acad Sci , vol.674 , pp. 65-88
    • Nixon, R.A.1    Cataldo, A.M.2    Paskevich, P.A.3
  • 23
    • 0017839485 scopus 로고
    • Juvenile Huntington chorea: Clinical, ultrastructural, and biochemical studies
    • Goebel HH, Heipertz R, Scholz W, et al. Juvenile Huntington chorea: clinical, ultrastructural, and biochemical studies. Neurology 1978;28:23-31.
    • (1978) Neurology , vol.28 , pp. 23-31
    • Goebel, H.H.1    Heipertz, R.2    Scholz, W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.