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Volumn 121, Issue 7, 1998, Pages 1267-1279

Biotin-responsive basal ganglia disease: A novel entity

Author keywords

Basal ganglia disease; Biotin; Dystonia

Indexed keywords

BIOTIN; BIOTINIDASE; CARBOXYLASE;

EID: 0031817568     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/121.7.1267     Document Type: Article
Times cited : (154)

References (53)
  • 2
    • 0027292046 scopus 로고
    • Reversal of brain atrophy with biotin treatment in biotinidase deficiency
    • Bousounis DP, Camfield PR, Wolf B. Reversal of brain atrophy with biotin treatment in biotinidase deficiency. Neuropediatrics 1993; 24: 214-7.
    • (1993) Neuropediatrics , vol.24 , pp. 214-217
    • Bousounis, D.P.1    Camfield, P.R.2    Wolf, B.3
  • 3
    • 0028557903 scopus 로고
    • CT and MR of the brain in the diagnosis of organic acidemias
    • Brismar J, Ozand PT. CT and MR of the brain in the diagnosis of organic acidemias. Brain Dev 1994; 16 Suppl: 104-24.
    • (1994) Brain Dev , vol.16 , Issue.SUPPL. , pp. 104-124
    • Brismar, J.1    Ozand, P.T.2
  • 4
    • 0028964466 scopus 로고
    • CT and MR of the brain in glutaric acidemia type 1: A review of 59 published cases and a report of 5 new patients
    • Brismar J, Ozand PT. CT and MR of the brain in glutaric acidemia type 1: a review of 59 published cases and a report of 5 new patients. AJNR Am J Neuroradiol 1995; 16: 675-83.
    • (1995) AJNR am J Neuroradiol , vol.16 , pp. 675-683
    • Brismar, J.1    Ozand, P.T.2
  • 5
    • 0019792634 scopus 로고
    • Mutant holocarboxylase synthetase: Evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency
    • Burri BJ, Sweetman L, Nyhan WL. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J Clin Invest 1981; 68: 1491-5.
    • (1981) J Clin Invest , vol.68 , pp. 1491-1495
    • Burri, B.J.1    Sweetman, L.2    Nyhan, W.L.3
  • 6
    • 0022548492 scopus 로고
    • Movement disorders in bacterial meningitis
    • Burstein L, Breningstall GN. Movement disorders in bacterial meningitis. J Pediatr 1986; 109: 260-4.
    • (1986) J Pediatr , vol.109 , pp. 260-264
    • Burstein, L.1    Breningstall, G.N.2
  • 7
    • 0028564683 scopus 로고
    • The clinical spectrum of biotin-treatable encephalopathies in Saudi Arabia
    • Dabbagh O, Brismar J, Gascon GG, Ozand PT. The clinical spectrum of biotin-treatable encephalopathies in Saudi Arabia. Brain Dev 1994; 16 Suppl: 72-80.
    • (1994) Brain Dev , vol.16 , Issue.SUPPL. , pp. 72-80
    • Dabbagh, O.1    Brismar, J.2    Gascon, G.G.3    Ozand, P.T.4
  • 8
    • 0027513602 scopus 로고
    • Childhood stroke associated with protein C or S deficiency and primary antiphospholipid syndrome
    • Devilat M, Toso M, Morales M. Childhood stroke associated with protein C or S deficiency and primary antiphospholipid syndrome. Pediatr Neurol 1993; 9: 67-70.
    • (1993) Pediatr Neurol , vol.9 , pp. 67-70
    • Devilat, M.1    Toso, M.2    Morales, M.3
  • 9
    • 0022536656 scopus 로고
    • Biotinidase deficiency: Accumulation of lactate in the brain and response to physiologic doses of biotin
    • Diamantopoulos N, Painter MJ, Wolf B, Heard GS, Roe C. Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin. Neurology 1986; 36: 1107-9.
    • (1986) Neurology , vol.36 , pp. 1107-1109
    • Diamantopoulos, N.1    Painter, M.J.2    Wolf, B.3    Heard, G.S.4    Roe, C.5
  • 10
    • 0024423638 scopus 로고
    • Postinfectious encephalomyelitis with localized basal ganglia involvement
    • Donovan MK, Lenn NJ. Postinfectious encephalomyelitis with localized basal ganglia involvement. Pediatr Neurol 1989; 5: 311-3.
    • (1989) Pediatr Neurol , vol.5 , pp. 311-313
    • Donovan, M.K.1    Lenn, N.J.2
  • 11
    • 0018424048 scopus 로고
    • Striatal degeneration in childhood
    • Erdohazi M, Marshall P. Striatal degeneration in childhood. Arch Dis Child 1979; 54: 85-91.
    • (1979) Arch Dis Child , vol.54 , pp. 85-91
    • Erdohazi, M.1    Marshall, P.2
  • 12
    • 0026004472 scopus 로고
    • Infantile bilateral striatal necrosis
    • Gauthier M, Geoffroy G. Infantile bilateral striatal necrosis [letter; comment]. J Pediatr 1991; 119: 675. Comment on: J Pediatr 1990; 117: 578-81.
    • (1991) J Pediatr , vol.119 , pp. 675
    • Gauthier, M.1    Geoffroy, G.2
  • 13
    • 0025129849 scopus 로고
    • Gauthier M, Geoffroy G. Infantile bilateral striatal necrosis [letter; comment]. J Pediatr 1991; 119: 675. Comment on: J Pediatr 1990; 117: 578-81.
    • (1990) J Pediatr , vol.117 , pp. 578-581
  • 14
    • 0020687358 scopus 로고
    • Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency
    • Gilbert EF, Arya S, Chun R. Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency. Arch Pathol Lab Med 1983; 107: 162-6.
    • (1983) Arch Pathol Lab Med , vol.107 , pp. 162-166
    • Gilbert, E.F.1    Arya, S.2    Chun, R.3
  • 15
    • 0019970166 scopus 로고
    • Acute neurological dysfunction associated with destructive lesions of the basal ganglia in children
    • Goutires F, Aicardi J. Acute neurological dysfunction associated with destructive lesions of the basal ganglia in children. Ann Neurol 1982; 12: 328-32.
    • (1982) Ann Neurol , vol.12 , pp. 328-332
    • Goutires, F.1    Aicardi, J.2
  • 16
    • 78349292832 scopus 로고
    • 14 C]biotin for kinetic studies and for assay
    • 14 C]biotin for kinetic studies and for assay. Biochem J 1963; 89: 585-91.
    • (1963) Biochem J , vol.89 , pp. 585-591
    • Green, N.M.1
  • 17
    • 3142516135 scopus 로고    scopus 로고
    • A case of familial juvenile dystonia-parkinsonism: 18F-6-fluorodopa and 18F-fluoro-2-deoxyglucose PET study
    • Hanakawa T, Fukuyama H, Akiguchi I, Kato M, Kimura J, Shibasaki H. A case of familial juvenile dystonia-parkinsonism: 18F-6-fluorodopa and 18F-fluoro-2-deoxyglucose PET study. [Japanese]. Rinsho Shinkeigaku 1996; 36: 655-60.
    • (1996) Rinsho Shinkeigaku , vol.36 , pp. 655-660
    • Hanakawa, T.1    Fukuyama, H.2    Akiguchi, I.3    Kato, M.4    Kimura, J.5    Shibasaki, H.6
  • 18
    • 0031410087 scopus 로고    scopus 로고
    • Determination of biotinidase activity with biotinyl-6-aminoquinoline as substrate
    • Hayakawa K, Yoshikawa K, Oizumi J, Yamauchi K. Determination of biotinidase activity with biotinyl-6-aminoquinoline as substrate. [Review]. Methods Enzymol 1997; 279: 435-42.
    • (1997) Methods Enzymol , vol.279 , pp. 435-442
    • Hayakawa, K.1    Yoshikawa, K.2    Oizumi, J.3    Yamauchi, K.4
  • 19
    • 0028609636 scopus 로고
    • MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency
    • Higgins JJ, Glasgow AM, Lusk M, Kerr DS. MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency. J Child Neurol 1994; 9: 436-9.
    • (1994) J Child Neurol , vol.9 , pp. 436-439
    • Higgins, J.J.1    Glasgow, A.M.2    Lusk, M.3    Kerr, D.S.4
  • 20
    • 0024459095 scopus 로고
    • Ischaemic stroke in the basal ganglia and internal capsule in childhood
    • Kappelle LJ, Willemse J, Ramos LM, van Gijn J. Ischaemic stroke in the basal ganglia and internal capsule in childhood. Brain Dev 1989; 11: 283-92.
    • (1989) Brain Dev , vol.11 , pp. 283-292
    • Kappelle, L.J.1    Willemse, J.2    Ramos, L.M.3    Van Gijn, J.4
  • 22
    • 0022550561 scopus 로고
    • Bilateral lucency of the globus pallidus complicating methylmalonic acidemia
    • Korf B, Wallman JK, Levy HL. Bilateral lucency of the globus pallidus complicating methylmalonic acidemia. Ann Neurol 1986; 20: 364-6.
    • (1986) Ann Neurol , vol.20 , pp. 364-366
    • Korf, B.1    Wallman, J.K.2    Levy, H.L.3
  • 24
    • 0016348009 scopus 로고
    • Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients
    • Marsden CD, Harrison MJ. Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients. Brain 1974; 97: 793-810.
    • (1974) Brain , vol.97 , pp. 793-810
    • Marsden, C.D.1    Harrison, M.J.2
  • 27
    • 0000186570 scopus 로고
    • Juvenile parkinsonism
    • Vinken PJ, Bruyn GW, Klawans HL, editors. Amsterdam: Elsevier Science
    • Narabayashi H, Yokochi M, lizuka R, Nagatsu T. Juvenile parkinsonism. In: Vinken PJ, Bruyn GW, Klawans HL, editors. Handbook of clinical neurology, Vol. 49. Amsterdam: Elsevier Science; 1986. p. 153-65.
    • (1986) Handbook of Clinical Neurology , vol.49 , pp. 153-165
    • Narabayashi, H.1    Yokochi, M.2    Lizuka, R.3    Nagatsu, T.4
  • 29
    • 0026021079 scopus 로고
    • Dopa-responsive dystonia: Long-term treatment response and prognosis
    • Nygaard TG, Marsden CD, Fahn S. Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology 1991 ; 41: 174-81.
    • (1991) Neurology , vol.41 , pp. 174-181
    • Nygaard, T.G.1    Marsden, C.D.2    Fahn, S.3
  • 31
    • 0021143782 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
    • Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984; 16: 481-8.
    • (1984) Ann Neurol , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    Dimauro, S.3    De Vivo, D.C.4    Rowland, L.P.5
  • 33
    • 0030292693 scopus 로고    scopus 로고
    • Movement disorders in childhood
    • published erratum appears in Pediatr Rev 1997; 18: 71
    • Pranzatelli MR. Movement disorders in childhood [published erratum appears in Pediatr Rev 1997; 18: 71]. [Review]. Pediatr Rev 1996; 17: 388-94.
    • (1996) Pediatr Rev , vol.17 , pp. 388-394
    • Pranzatelli, M.R.1
  • 34
    • 0028298976 scopus 로고
    • Clinical spectrum of secondary parkinsonism in childhood: A reversible disorder
    • Pranzatelli MR, Mott SH, Pavlakis SG, Conry JA, Tate ED. Clinical spectrum of secondary parkinsonism in childhood: a reversible disorder. [Review]. Pediatr Neurol 1994; 10: 131-40.
    • (1994) Pediatr Neurol , vol.10 , pp. 131-140
    • Pranzatelli, M.R.1    Mott, S.H.2    Pavlakis, S.G.3    Conry, J.A.4    Tate, E.D.5
  • 36
    • 0029121111 scopus 로고
    • Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry
    • Rashed MS, Ozand PT, Bucknall MP, Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 1995; 38: 324-31.
    • (1995) Pediatr Res , vol.38 , pp. 324-331
    • Rashed, M.S.1    Ozand, P.T.2    Bucknall, M.P.3    Little, D.4
  • 37
    • 0025129849 scopus 로고
    • Acute neurologic dysfunction associated with destructive lesions of the basal ganglia: A benign form of infantile bilateral striatal necrosis
    • Roig M, Macaya A, Munell F, Capdevila A. Acute neurologic dysfunction associated with destructive lesions of the basal ganglia: a benign form of infantile bilateral striatal necrosis [see comments]. J Pediatr 1990; 117: 578-581. Comment in: J Pediatr 1991; 119: 675.
    • (1990) J Pediatr , vol.117 , pp. 578-581
    • Roig, M.1    Macaya, A.2    Munell, F.3    Capdevila, A.4
  • 38
    • 0026004472 scopus 로고
    • Roig M, Macaya A, Munell F, Capdevila A. Acute neurologic dysfunction associated with destructive lesions of the basal ganglia: a benign form of infantile bilateral striatal necrosis [see comments]. J Pediatr 1990; 117: 578-581. Comment in: J Pediatr 1991; 119: 675.
    • (1991) J Pediatr , vol.119 , pp. 675
  • 41
    • 0025952854 scopus 로고
    • Abnormal MRI signal in the rigid form of Huntington's disease
    • Savoiardo M, Strada L, Oliva D, Girotti F, D'Incerti L. Abnormal MRI signal in the rigid form of Huntington's disease [see comments]. J Neurol Neurosurg Psychiatry 1991; 54: 888-91. Comment in: J Neurol Neurosurg Psychiatry 1993; 54: 834-5.
    • (1991) J Neurol Neurosurg Psychiatry , vol.54 , pp. 888-891
    • Savoiardo, M.1    Strada, L.2    Oliva, D.3    Girotti, F.4    D'Incerti, L.5
  • 42
    • 0025952854 scopus 로고
    • Savoiardo M, Strada L, Oliva D, Girotti F, D'Incerti L. Abnormal MRI signal in the rigid form of Huntington's disease [see comments]. J Neurol Neurosurg Psychiatry 1991; 54: 888-91. Comment in: J Neurol Neurosurg Psychiatry 1993; 54: 834-5.
    • (1993) J Neurol Neurosurg Psychiatry , vol.54 , pp. 834-835
  • 44
    • 0027194891 scopus 로고
    • Extrapyramidal disorders in childhood
    • Segawa M. Extrapyramidal disorders in childhood. [Review]. Curr Opin Neurol Neurosurg 1993; 6: 387-92.
    • (1993) Curr Opin Neurol Neurosurg , vol.6 , pp. 387-392
    • Segawa, M.1
  • 45
    • 0023094363 scopus 로고
    • Biotin transport through the blood-brain barrier
    • Spector R, Mock D. Biotin transport through the blood-brain barrier. J Neurochem 1987; 48: 400-4.
    • (1987) J Neurochem , vol.48 , pp. 400-404
    • Spector, R.1    Mock, D.2
  • 46
    • 0023097124 scopus 로고
    • Clinical assessment of 31 patients with Wilson's disease: Correlations with structural changes on magnetic resonance imaging
    • Starosta-Rubinstein S, Young AB, Kluin K, Hill G, Aisen AM, Gabrielsen T, et al. Clinical assessment of 31 patients with Wilson's disease: Correlations with structural changes on magnetic resonance imaging. Arch Neurol 1987; 44: 365-70.
    • (1987) Arch Neurol , vol.44 , pp. 365-370
    • Starosta-Rubinstein, S.1    Young, A.B.2    Kluin, K.3    Hill, G.4    Aisen, A.M.5    Gabrielsen, T.6
  • 47
    • 0021961541 scopus 로고
    • Neurologic symptoms of biotinidase deficiency: Possible explanation
    • Suchy SF, McVoy JS, Wolf B. Neurologic symptoms of biotinidase deficiency: possible explanation. Neurology 1985; 35: 1510-1.
    • (1985) Neurology , vol.35 , pp. 1510-1511
    • Suchy, S.F.1    McVoy, J.S.2    Wolf, B.3
  • 48
    • 0017671782 scopus 로고
    • Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria
    • Sweetman L, Bates SP, Hull D, Nyhan WL. Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria. Pediatr Res 1977; 11: 1144-7.
    • (1977) Pediatr Res , vol.11 , pp. 1144-1147
    • Sweetman, L.1    Bates, S.P.2    Hull, D.3    Nyhan, W.L.4
  • 49
    • 0029759164 scopus 로고    scopus 로고
    • Family study and segregation analysis of Tourette syndrome: Evidence for a mixed model of inheritance
    • Walkup JT, LaBuda MC, Singer HS, Brown J, Riddle MA, Hurko O. Family study and segregation analysis of Tourette syndrome: evidence for a mixed model of inheritance. Am J Hum Genet 1996; 59: 684-93.
    • (1996) Am J Hum Genet , vol.59 , pp. 684-693
    • Walkup, J.T.1    Labuda, M.C.2    Singer, H.S.3    Brown, J.4    Riddle, M.A.5    Hurko, O.6
  • 50
    • 0003114965 scopus 로고
    • Disorders of biotin metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors New York: McGraw Hill
    • Wolf B. Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw Hill; 1995. p. 3151-77.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. , pp. 3151-3177
    • Wolf, B.1
  • 51
    • 0020324194 scopus 로고
    • The biotin-dependent carboxylase deficiencies
    • Wolf B, Feldman GL. The biotin-dependent carboxylase deficiencies. [Review]. Am J Hum Genet 1982; 34: 699-716.
    • (1982) Am J Hum Genet , vol.34 , pp. 699-716
    • Wolf, B.1    Feldman, G.L.2


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