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Volumn 57, Issue 3, 2000, Pages 389-395

Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; DENTATE NUCLEUS; FEMALE; GAUCHER DISEASE; GENETIC VARIABILITY; HUMAN; MYOCLONUS; NERVE DEGENERATION; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0034011426     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.57.3.389     Document Type: Article
Times cited : (26)

References (53)
  • 1
    • 0001211738 scopus 로고
    • Gaucher disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York, NY: McGraw-Hill Co
    • Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York, NY: McGraw-Hill Co; 1994;2641-2670.
    • (1994) The Metabolic Basis of Inherited Disease , pp. 2641-2670
    • Beutler, E.1    Grabowski, G.A.2
  • 4
  • 6
    • 0028852471 scopus 로고
    • Gaucher disease
    • Beutler E. Gaucher disease. Adv Genet. 1995;32:17-49.
    • (1995) Adv Genet. , vol.32 , pp. 17-49
    • Beutler, E.1
  • 7
    • 0015496948 scopus 로고
    • Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase
    • Miyatake T, Suzuki K. Globoid cell leukodystrophy: additional deficiency of psychosine galactosidase. Biochem Biophys Res Commun. 1972;48:538-543.
    • (1972) Biochem Biophys Res Commun. , vol.48 , pp. 538-543
    • Miyatake, T.1    Suzuki, K.2
  • 8
    • 0031932297 scopus 로고    scopus 로고
    • Twenty-five years of the "psychosine hypothesis": A personal perspective of its history and present status
    • Suzuki K. Twenty-five years of the "psychosine hypothesis": a personal perspective of its history and present status. Neurochem Res. 1998;23:251-259.
    • (1998) Neurochem Res. , vol.23 , pp. 251-259
    • Suzuki, K.1
  • 9
    • 0020320060 scopus 로고
    • Accumulalion of glucosylcerarnide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease
    • Nilsson O, Svennerholm L. Accumulalion of glucosylcerarnide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J Neurochem. 1982;39:709-718.
    • (1982) J Neurochem. , vol.39 , pp. 709-718
    • Nilsson, O.1    Svennerholm, L.2
  • 11
    • 0022573318 scopus 로고
    • Cerebrosides and psychosine disrupt mitochondrial functions
    • Strasberg P. Cerebrosides and psychosine disrupt mitochondrial functions. Biochem Cell Biol. 1986;64:485-489.
    • (1986) Biochem Cell Biol. , vol.64 , pp. 485-489
    • Strasberg, P.1
  • 13
    • 0031464734 scopus 로고    scopus 로고
    • Gaucher's disease: The best laid schemes of mice and men
    • Sidransky E, Ginns EI. Gaucher's disease: the best laid schemes of mice and men. Baillieres Clin Haematol. 1997;10:725-737.
    • (1997) Baillieres Clin Haematol. , vol.10 , pp. 725-737
    • Sidransky, E.1    Ginns, E.I.2
  • 14
    • 0027948540 scopus 로고
    • Enzyme replacement treatment in type 1 and type 3 Gaucher's disease
    • Bembi B, Zanatta M, Carrozzi M, et al. Enzyme replacement treatment in type 1 and type 3 Gaucher's disease. Lancet. 1994;344:1679-1682.
    • (1994) Lancet , vol.344 , pp. 1679-1682
    • Bembi, B.1    Zanatta, M.2    Carrozzi, M.3
  • 15
    • 0030772366 scopus 로고    scopus 로고
    • Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher disease
    • Schiffmann R, Heyes MP, Aerts JM, et al. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher disease. Ann Neurol. 1997;42:613-621.
    • (1997) Ann Neurol. , vol.42 , pp. 613-621
    • Schiffmann, R.1    Heyes, M.P.2    Aerts, J.M.3
  • 16
    • 0017413125 scopus 로고
    • Reticular reflex myoclonus: A physiological type of human post-hypoxic myoclonus
    • Hallett M, Chadwick D, Adam J, et al. Reticular reflex myoclonus: a physiological type of human post-hypoxic myoclonus. J Neurol Neurosurg Psychiatry. 1977;40:253-264.
    • (1977) J Neurol Neurosurg Psychiatry , vol.40 , pp. 253-264
    • Hallett, M.1    Chadwick, D.2    Adam, J.3
  • 18
    • 0022568424 scopus 로고
    • Evolving ideas on the neurophysiology of myoclonus
    • Fahn S, Marsden CD, Van Woert MH, eds. New York, NY: Raven Press
    • Halliday AM. Evolving ideas on the neurophysiology of myoclonus. In: Fahn S, Marsden CD, Van Woert MH, eds. Myoclonus: Advances in Neurology. Vol 43. New York, NY: Raven Press; 1986:339-355.
    • (1986) Myoclonus: Advances in Neurology , vol.43 , pp. 339-355
    • Halliday, A.M.1
  • 19
    • 0025897365 scopus 로고
    • A case of postanoxic encephalopathy with cortical action and brainstem reticular reflex myoclonus
    • Brown P, Thompson PD, Rothwell JC, Day BL, Marsden CD. A case of postanoxic encephalopathy with cortical action and brainstem reticular reflex myoclonus. Mov Disord. 1991;6:139-144.
    • (1991) Mov Disord. , vol.6 , pp. 139-144
    • Brown, P.1    Thompson, P.D.2    Rothwell, J.C.3    Day, B.L.4    Marsden, C.D.5
  • 20
    • 0022567096 scopus 로고
    • Action myoclonus, Ramsay Hunt Syndrome, and other cerebellar myoclonic syndromes
    • Fahn S, Marsden CD, Van Woert MH, eds. New York, NY: Raven Press
    • Lance JW. Action myoclonus, Ramsay Hunt Syndrome, and other cerebellar myoclonic syndromes. In: Fahn S, Marsden CD, Van Woert MH, eds. Myoclonus: Advances in Neurology. Vol 43. New York, NY: Raven Press; 1986:33-55
    • (1986) Myoclonus: Advances in Neurology , vol.43 , pp. 33-55
    • Lance, J.W.1
  • 21
    • 0000320641 scopus 로고
    • The syndrome of intention or action myoclonus as a sequel to hypoxic encephalopathy
    • Lance JW, Adams RD. The syndrome of intention or action myoclonus as a sequel to hypoxic encephalopathy. Brain. 1963;86:111-136.
    • (1963) Brain , vol.86 , pp. 111-136
    • Lance, J.W.1    Adams, R.D.2
  • 22
    • 0018403219 scopus 로고
    • Uraemic myoclonus: An example of relicular reflex myoclonus?
    • Chadwick D, French AT. Uraemic myoclonus: an example of relicular reflex myoclonus? J Neurol Neurosurg Psychiatry. 1979;42:52-55.
    • (1979) J Neurol Neurosurg Psychiatry , vol.42 , pp. 52-55
    • Chadwick, D.1    French, A.T.2
  • 23
  • 24
    • 0027442703 scopus 로고
    • Phenotype/genotype correlations in Gaucher disease type 1: Clinical and therapeutic implications
    • Sibille A, Eng C, Kim S-J, Pastores G, Grabowski GA. Phenotype/genotype correlations in Gaucher disease type 1: clinical and therapeutic implications. Am J Hum Genet. 1993;52:1094-1101.
    • (1993) Am J Hum Genet. , vol.52 , pp. 1094-1101
    • Sibille, A.1    Eng, C.2    Kim, S.-J.3    Pastores, G.4    Grabowski, G.A.5
  • 25
    • 0025614914 scopus 로고
    • The facile detection of the nt 1226 mutation ot glucocerebrosidase by "mismatched" PCR
    • Beutler E, Gelbart T, West C. The facile detection of the nt 1226 mutation ot glucocerebrosidase by "mismatched" PCR. Clin Chim Acta. 1990;194:161-166.
    • (1990) Clin Chim Acta , vol.194 , pp. 161-166
    • Beutler, E.1    Gelbart, T.2    West, C.3
  • 26
    • 0023131172 scopus 로고
    • A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
    • Tsuji S, Choudary P, Martin B, et al. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med. 1987;316:570-575.
    • (1987) N Engl J Med. , vol.316 , pp. 570-575
    • Tsuji, S.1    Choudary, P.2    Martin, B.3
  • 27
    • 0025831078 scopus 로고
    • Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state
    • Beutler E, Gelbart T, Kuhl W, Sorge J, West C. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc Natl Acad Sci U S A. 1991;88:10544-10547.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 10544-10547
    • Beutler, E.1    Gelbart, T.2    Kuhl, W.3    Sorge, J.4    West, C.5
  • 28
    • 0026701193 scopus 로고
    • +1 IVS2 splice donor site mutation causing exon 2 skipping in the acid β-glucosidase mRNA
    • +1 IVS2 splice donor site mutation causing exon 2 skipping in the acid β-glucosidase mRNA. Am J Hum Genet. 1992;51:810-820.
    • (1992) Am J Hum Genet. , vol.51 , pp. 810-820
    • He, G.-S.1    Grabowski, G.A.2
  • 29
    • 0031452699 scopus 로고    scopus 로고
    • Gaucher's disease: Molecular, genetic and enzymological aspects
    • Grabowski GA, Horowitz M. Gaucher's disease: molecular, genetic and enzymological aspects. Clin Haematol. 1997;10:635-656.
    • (1997) Clin Haematol. , vol.10 , pp. 635-656
    • Grabowski, G.A.1    Horowitz, M.2
  • 32
    • 0028157443 scopus 로고
    • Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression
    • Grace ME, Newman KM, Scheinker V, Berg-Fussman A, Grabowski GA. Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression. J Biol Chem. 1994;269:2283-2291.
    • (1994) J Biol Chem. , vol.269 , pp. 2283-2291
    • Grace, M.E.1    Newman, K.M.2    Scheinker, V.3    Berg-Fussman, A.4    Grabowski, G.A.5
  • 34
    • 28444468578 scopus 로고
    • A type of congenital ocular motor apraxia presenting jerky head movements
    • Cogan DG. A type of congenital ocular motor apraxia presenting jerky head movements. Trans Am Acad Ophthalmol Otolaryngol. 1952;56:853-862.
    • (1952) Trans Am Acad Ophthalmol Otolaryngol. , vol.56 , pp. 853-862
    • Cogan, D.G.1
  • 35
    • 0013955095 scopus 로고
    • Congenital oculomotor apraxia
    • Cogan DG. Congenital oculomotor apraxia. Can J Ophthalmol. 1966;1:253-260.
    • (1966) Can J Ophthalmol. , vol.1 , pp. 253-260
    • Cogan, D.G.1
  • 36
    • 0028349336 scopus 로고
    • Comparison of oculomotor findings in the progressive ataxia syndromes
    • Moschner C, Perlman S, Baloh RW. Comparison of oculomotor findings in the progressive ataxia syndromes. Brain. 1994;117:15-25.
    • (1994) Brain , vol.117 , pp. 15-25
    • Moschner, C.1    Perlman, S.2    Baloh, R.W.3
  • 38
    • 0342826401 scopus 로고    scopus 로고
    • Cerebellum
    • Afifi AK, Bergman RA, eds. New York, NY: McGraw-Hill Inc
    • Afifi AK, Bergman RA. Cerebellum. In: Afifi AK, Bergman RA, eds. Functional Neuroanatomy. New York, NY: McGraw-Hill Inc; 1998:306-329.
    • (1998) Functional Neuroanatomy , pp. 306-329
    • Afifi, A.K.1    Bergman, R.A.2
  • 39
    • 0020508736 scopus 로고
    • Non-infantile neuronopathic Gaucher's disease: A clinicopathological study
    • Winkelman MD, Banker BQ, Victor M, Moser HW. Non-infantile neuronopathic Gaucher's disease: a clinicopathological study. Neurology. 1983;33:994-1008.
    • (1983) Neurology , vol.33 , pp. 994-1008
    • Winkelman, M.D.1    Banker, B.Q.2    Victor, M.3    Moser, H.W.4
  • 40
    • 0025833151 scopus 로고
    • Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: Neuropathological and neurochemical findings
    • Conradi N, Kyllerman M, Mansson JE, Percy AK, Svennerholm L. Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings, Acta Neuropathol (Berl). 1991;82:152-157.
    • (1991) Acta Neuropathol (Berl) , vol.82 , pp. 152-157
    • Conradi, N.1    Kyllerman, M.2    Mansson, J.E.3    Percy, A.K.4    Svennerholm, L.5
  • 41
    • 0029923695 scopus 로고    scopus 로고
    • Progressive myoclonus epilepsy with focal brain stem degeneration and paternal inheritance: An autopsy report of 4 cases from 2 pedigrees
    • Moss TH, Stevens DL, Campbell MJ. Progressive myoclonus epilepsy with focal brain stem degeneration and paternal inheritance: an autopsy report of 4 cases from 2 pedigrees. Clin Neuropathol. 1996;15:106-112.
    • (1996) Clin Neuropathol. , vol.15 , pp. 106-112
    • Moss, T.H.1    Stevens, D.L.2    Campbell, M.J.3
  • 42
    • 0018304377 scopus 로고
    • Neuropathologic findings in a patient with neuroblastoma and myoclonic encephalopathy
    • Ziter FM, Bray PF, Cancilla PA. Neuropathologic findings in a patient with neuroblastoma and myoclonic encephalopathy. Arch Neurol. 1979;36:51.
    • (1979) Arch Neurol. , vol.36 , pp. 51
    • Ziter, F.M.1    Bray, P.F.2    Cancilla, P.A.3
  • 44
    • 0019419262 scopus 로고
    • Mitochondrial myopathy and lactic acidemia with myoclonic epilepsy, ataxia and hypothalamic infertility: A variant of Ramsay-Hunt syndrome?
    • Fitzsimons RB, Clifton-Bligh P, Wolfenden WH. Mitochondrial myopathy and lactic acidemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome? J Neurol Neurosurg Psychiatry. 1981;44:79-82.
    • (1981) J Neurol Neurosurg Psychiatry , vol.44 , pp. 79-82
    • Fitzsimons, R.B.1    Clifton-Bligh, P.2    Wolfenden, W.H.3
  • 46
    • 0012987456 scopus 로고
    • Leipzig, Germany: Franz Deuticke
    • Unverricht H. Die Myoclonie. Leipzig, Germany: Franz Deuticke; 1891:1-128.
    • (1891) Die Myoclonie , pp. 1-128
    • Unverricht, H.1
  • 48
    • 51849175000 scopus 로고
    • Beitrag zur histopathologie der myoklonischen epilepsie
    • Lafora GR, Glueck B. Beitrag zur histopathologie der myoklonischen Epilepsie. Z Gesamte Neurol Psychiatr. 1911;6:1-14.
    • (1911) Z Gesamte Neurol Psychiatr. , vol.6 , pp. 1-14
    • Lafora, G.R.1    Glueck, B.2
  • 49
    • 0022589657 scopus 로고
    • Myoclonus in neuronal storage and Lafora disease
    • Fahn S, Marsden CD, Van Woert MH, eds. New York, NY: Raven Press
    • Rapin I. Myoclonus in neuronal storage and Lafora disease. In: Fahn S, Marsden CD, Van Woert MH, eds. Myoclonus: Advances in Neurology. Vol 43. New York, NY: Raven Press; 1986:65-85.
    • (1986) Myoclonus: Advances in Neurology , vol.43 , pp. 65-85
    • Rapin, I.1
  • 50
    • 0022595129 scopus 로고
    • DDT myoclonus: Site of a myoclonus center in the brain
    • Fahn S, Marsden CD, Van Woert WH, eds. New York, NY: Raven Press
    • Chung E, Van Woert MH. DDT myoclonus: site of a myoclonus center in the brain. In: Fahn S, Marsden CD, Van Woert WH, eds. Myoclonus: Advances in Neurology. Vol 43. New York, NY: Raven Press; 1986:569-575.
    • (1986) Myoclonus: Advances in Neurology , vol.43 , pp. 569-575
    • Chung, E.1    Van Woert, M.H.2
  • 51
    • 0022837350 scopus 로고
    • Gaucher disease-Norrbottnian type (III): Neuropediatric and neurobiological aspects of clinical patterns and treatment
    • Eriksson A. Gaucher disease-Norrbottnian type (III): neuropediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand. 1986;326(suppl):1-41.
    • (1986) Acta Paediatr Scand. , vol.326 , Issue.SUPPL. , pp. 1-41
    • Eriksson, A.1
  • 52
    • 0018903154 scopus 로고
    • Gaucher disease-Norrbottnian type I: General clinical description
    • Dreborg S, Eriksson A, Hagberg B. Gaucher disease-Norrbottnian type I: general clinical description. Eur J Pediatr. 1980;133:107-118.
    • (1980) Eur J Pediatr. , vol.133 , pp. 107-118
    • Dreborg, S.1    Eriksson, A.2    Hagberg, B.3
  • 53
    • 0022494415 scopus 로고
    • Type 2 and type 3 Gaucher disease: A morphological and biochemical study
    • Kaye EM, Ullman MD, Wilson ER, Sarranger JA. Type 2 and type 3 Gaucher disease: a morphological and biochemical study. Ann Neurol. 1986;2:223-230.
    • (1986) Ann Neurol. , vol.2 , pp. 223-230
    • Kaye, E.M.1    Ullman, M.D.2    Wilson, E.R.3    Sarranger, J.A.4


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