메뉴 건너뛰기




Volumn 8, Issue 5, 2012, Pages 275-283

Diagnosis of dystonic syndromes-a new eight-question approach

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER 1; LEVODOPA; NEUROLEPTIC AGENT;

EID: 84862786100     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2012.39     Document Type: Review
Times cited : (11)

References (89)
  • 1
    • 0021476278 scopus 로고
    • The varied clinical expressions of dystonia
    • Fahn, S. The varied clinical expressions of dystonia. Neurol. Clin. 2, 541-554 (1984).
    • (1984) Neurol. Clin. , vol.2 , pp. 541-554
    • Fahn, S.1
  • 2
    • 70449986001 scopus 로고    scopus 로고
    • Is this dystonia?
    • Albanese, A. & Lalli, S. Is this dystonia? Mov. Disord. 24, 1725-1731 (2009).
    • (2009) Mov. Disord. , vol.24 , pp. 1725-1731
    • Albanese, A.1    Lalli, S.2
  • 3
    • 77953344798 scopus 로고    scopus 로고
    • Secondary dystonia-clinical clues and syndromic associations
    • Schneider, S. A. & Bhatia, K. P. Secondary dystonia-clinical clues and syndromic associations. Eur. J. Neurol. 17, 52-57 (2010).
    • (2010) Eur. J. Neurol. , vol.17 , pp. 52-57
    • Schneider, S.A.1    Bhatia, K.P.2
  • 4
    • 0036869771 scopus 로고    scopus 로고
    • Dystonia: A disorder of motor programming or motor execution?
    • DOI 10.1002/mds.10284
    • Kanovsky, P. Dystonia: a disorder of motor programming or motor execution? Mov. Disord. 17, 1143-1147 (2002). (Pubitemid 36041327)
    • (2002) Movement Disorders , vol.17 , Issue.6 , pp. 1143-1147
    • Kanovsky, P.1
  • 5
    • 0038713569 scopus 로고    scopus 로고
    • Idiopathic focal dystonia: A disorder of muscle spindle afferent processing?
    • DOI 10.1093/brain/120.12.2179
    • Grunewald, R. A., Yoneda, Y., Shipman, J. M. & Sagar, H. J. Idiopathic focal dystonia: a disorder of muscle spindle afferent processing? Brain 120, 2179-2185 (1997). (Pubitemid 28014594)
    • (1997) Brain , vol.120 , Issue.12 , pp. 2179-2185
    • Grunewald, R.A.1    Yoneda, Y.2    Shipman, J.M.3    Sagar, H.J.4
  • 7
    • 0031974946 scopus 로고    scopus 로고
    • Alterations of motor cortical inhibition in patients with dystonia
    • DOI 10.1002/mds.870130123
    • Rona, S., Berardelli, A., Vacca, L., Inghilleri, M. & Manfredi, M. Alterations of motor cortical inhibition in patients with dystonia. Mov. Disord. 13, 118-124 (1998). (Pubitemid 28029862)
    • (1998) Movement Disorders , vol.13 , Issue.1 , pp. 118-124
    • Rona, S.1    Berardelli, A.2    Vacca, L.3    Inghilleri, M.4    Manfredi, M.5
  • 8
    • 0035412898 scopus 로고    scopus 로고
    • Sensory function of basal ganglia
    • DOI 10.1002/mds.1137
    • Kaji, R. & Murase, N. Sensory function of basal ganglia. Mov. Disord. 16, 593-594 (2001). (Pubitemid 36040837)
    • (2001) Movement Disorders , vol.16 , Issue.4 , pp. 593-594
    • Kaji, R.1    Murase, N.2
  • 9
    • 0029164597 scopus 로고
    • Is dystonia a sensory disorder?
    • Hallett, M. Is dystonia a sensory disorder? Ann. Neurol. 38, 139-140 (1995).
    • (1995) Ann. Neurol. , vol.38 , pp. 139-140
    • Hallett, M.1
  • 10
    • 68249092884 scopus 로고    scopus 로고
    • Does neurophysiological testing provide the information we need to improve the clinical management of primary dystonia?
    • Tinazzi, M., Squintani, G. & Berardelli, A. Does neurophysiological testing provide the information we need to improve the clinical management of primary dystonia? Clin. Neurophysiol. 120, 1424-1432 (2009).
    • (2009) Clin. Neurophysiol. , vol.120 , pp. 1424-1432
    • Tinazzi, M.1    Squintani, G.2    Berardelli, A.3
  • 11
    • 0036212214 scopus 로고    scopus 로고
    • The genetics of primary dystonias and related disorders
    • Nemeth, A. H. The genetics of primary dystonias and related disorders. Brain 125, 695-721 (2002). (Pubitemid 34279768)
    • (2002) Brain , vol.125 , Issue.4 , pp. 695-721
    • Nemeth, A.H.1
  • 13
    • 5644297028 scopus 로고    scopus 로고
    • Epidemiology of primary dystonia
    • DOI 10.1016/S1474-4422(04)00907-X, PII S147444220400907X
    • Defazio, G., Abbruzzese, G., Livrea, P. & Berardelli, A. Epidemiology of primary dystonia. Lancet Neurol. 3, 673-678 (2004). (Pubitemid 39370637)
    • (2004) Lancet Neurology , vol.3 , Issue.11 , pp. 673-678
    • Defazio, G.1    Abbruzzese, G.2    Livrea, P.3    Berardelli, A.4
  • 16
    • 0033745810 scopus 로고    scopus 로고
    • A prevalence study of primary dystonia in eight European countries
    • A prevalence study of primary dystonia in eight European countries. J. Neurol. 247, 787-792 (2000).
    • (2000) J. Neurol. , vol.247 , pp. 787-792
  • 17
    • 0026486332 scopus 로고
    • Symptomatic dystonia: Clinical profile of 46 Brazilian patients
    • Ferraz, H. B. & Andrade, L. A. Symptomatic dystonia: clinical profile of 46 Brazilian patients. Can. J. Neurol. Sci. 19, 504-507 (1992).
    • (1992) Can. J. Neurol. Sci. , vol.19 , pp. 504-507
    • Ferraz, H.B.1    Andrade, L.A.2
  • 19
    • 0031789919 scopus 로고    scopus 로고
    • The natural history of tardive dystonia. A long-term follow-up study of 107 cases
    • DOI 10.1093/brain/121.11.2053
    • Kiriakakis, V., Bhatia, K. P., Quinn, N. P. & Marsden, C. D. The natural history of tardive dystonia. A long-term follow-up study of 107 cases. Brain 121, 2053-2066 (1998). (Pubitemid 28497904)
    • (1998) Brain , vol.121 , Issue.11 , pp. 2053-2066
    • Kiriakakis, V.1    Bhatia, K.P.2    Quinn, N.P.3    Marsden, C.D.4
  • 20
    • 33746957321 scopus 로고    scopus 로고
    • The diagnosis of dystonia
    • DOI 10.1016/S1474-4422(06)70547-6, PII S1474442206705476
    • Geyer, H. L. & Bressman, S. B. The diagnosis of dystonia. Lancet Neurol. 5, 780-790 (2006). (Pubitemid 44205514)
    • (2006) Lancet Neurology , vol.5 , Issue.9 , pp. 780-790
    • Geyer, H.L.1    Bressman, S.B.2
  • 21
    • 34648814423 scopus 로고    scopus 로고
    • Prevalence of cervical dystonia and spasmodic torticollis in the United States general population
    • DOI 10.1016/j.parkreldis.2007.02.005, PII S1353802007000296
    • Jankovic, J., Tsui, J. & Bergeron, C. Prevalence of cervical dystonia and spasmodic torticollis in the United States general population. Parkinsonism Relat. Disord. 13, 411-416 (2007). (Pubitemid 47454719)
    • (2007) Parkinsonism and Related Disorders , vol.13 , Issue.7 , pp. 411-416
    • Jankovic, J.1    Tsui, J.2    Bergeron, C.3
  • 22
    • 0034545339 scopus 로고    scopus 로고
    • Dystonia update
    • DOI 10.1097/00002826-200009000-00002
    • Bressman, S. B. Dystonia update. Clin. Neuropharmacol. 23, 239-251 (2000). (Pubitemid 32014473)
    • (2000) Clinical Neuropharmacology , vol.23 , Issue.5 , pp. 239-251
    • Bressman, S.B.1
  • 25
    • 68449102380 scopus 로고    scopus 로고
    • Psychogenic movement disorders
    • Gupta, A. & Lang, A. E. Psychogenic movement disorders. Curr. Opin. Neurol. 22, 430-436 (2009).
    • (2009) Curr. Opin. Neurol. , vol.22 , pp. 430-436
    • Gupta, A.1    Lang, A.E.2
  • 26
    • 0025892064 scopus 로고
    • Idiopathic cervical dystonia: Clinical characteristics
    • Chan, J., Brin, M. F. & Fahn, S. Idiopathic cervical dystonia: clinical characteristics. Mov. Disord. 6, 119-126 (1991).
    • (1991) Mov. Disord. , vol.6 , pp. 119-126
    • Chan, J.1    Brin, M.F.2    Fahn, S.3
  • 27
    • 77949504577 scopus 로고    scopus 로고
    • The phenomenology of the geste antagoniste in primary blepharospasm and cervical dystonia
    • Martino, D. et al. The phenomenology of the geste antagoniste in primary blepharospasm and cervical dystonia. Mov. Disord. 25, 407-412 (2010).
    • (2010) Mov. Disord. , vol.25 , pp. 407-412
    • Martino, D.1
  • 28
    • 0031920885 scopus 로고    scopus 로고
    • Exteroceptive and interoceptive stimuli in dystonia
    • DOI 10.1002/mds.870130329
    • Greene, P. E. & Bressman, S. Exteroceptive and interoceptive stimuli in dystonia. Mov. Disord. 13, 549-551 (1998). (Pubitemid 28221513)
    • (1998) Movement Disorders , vol.13 , Issue.3 , pp. 549-551
    • Greene, P.E.1    Bressman, S.2
  • 29
    • 77955817959 scopus 로고    scopus 로고
    • The diagnostic challenge of primary dystonia: Evidence from misdiagnosis
    • Lalli, S. & Albanese, A. The diagnostic challenge of primary dystonia: evidence from misdiagnosis. Mov. Disord. 25, 1619-1626 (2010).
    • (2010) Mov. Disord. , vol.25 , pp. 1619-1626
    • Lalli, S.1    Albanese, A.2
  • 30
    • 70350294580 scopus 로고    scopus 로고
    • Inborn errors of metabolism and motor disturbances in children
    • Garcia-Cazorla, A. et al. Inborn errors of metabolism and motor disturbances in children. J. Inherit. Metab. Dis. 32, 618-629 (2009).
    • (2009) J. Inherit. Metab. Dis. , vol.32 , pp. 618-629
    • Garcia-Cazorla, A.1
  • 33
    • 67449149588 scopus 로고    scopus 로고
    • Genetics and treatment of dystonia
    • vi
    • Schwarz, C. S. & Bressman, S. B. Genetics and treatment of dystonia. Neurol. Clin. 27, 697-718, vi (2009).
    • (2009) Neurol. Clin. , vol.27 , pp. 697-718
    • Schwarz, C.S.1    Bressman, S.B.2
  • 34
    • 0024457283 scopus 로고
    • Idiopathic dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance
    • Bressman, S. B. et al. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann. Neurol. 26, 612-620 (1989).
    • (1989) Ann. Neurol. , vol.26 , pp. 612-620
    • Bressman, S.B.1
  • 35
    • 0031797115 scopus 로고    scopus 로고
    • The role of DYT1 in primary torsion dystonia in Europe
    • Valente, E. M. et al. The role of DYT1 in primary torsion dystonia in Europe. Brain 121, 2335-2339 (1998).
    • (1998) Brain , vol.121 , pp. 2335-2339
    • Valente, E.M.1
  • 36
    • 67849106621 scopus 로고    scopus 로고
    • Autosomal-dominant GTPCH1-deficient DRD: Clinical characteristics and long-term outcome of 34 patients
    • Trender-Gerhard, I. et al. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J. Neurol. Neurosurg. Psychiatry 80, 839-845 (2009).
    • (2009) J. Neurol. Neurosurg. Psychiatry , vol.80 , pp. 839-845
    • Trender-Gerhard, I.1
  • 37
    • 77953350186 scopus 로고    scopus 로고
    • Dystonia-plus syndromes
    • Asmus, F. & Gasser, T. Dystonia-plus syndromes. Eur. J. Neurol. 17, 37-45 (2010).
    • (2010) Eur. J. Neurol. , vol.17 , pp. 37-45
    • Asmus, F.1    Gasser, T.2
  • 39
    • 7044240807 scopus 로고    scopus 로고
    • Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency
    • Schiller, A., Wevers, R. A., Steenbergen, G. C., Blau, N. & Jung, H. H. Long-term course of l-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Neurology 63, 1524-1526 (2004). (Pubitemid 39426298)
    • (2004) Neurology , vol.63 , Issue.8 , pp. 1524-1526
    • Schiller, A.1    Wevers, R.A.2    Steenbergen, G.C.H.3    Blau, N.4    Jung, H.H.5
  • 41
    • 0021281788 scopus 로고
    • Hemi-dystonia secondary to localised basal ganglia tumour
    • Narbona, J., Obeso, J. A., Tunon, T., Martinez-Lage, J. M. & Marsden, C. D. Hemi-dystonia secondary to localised basal ganglia tumour. J. Neurol. Neurosurg. Psychiatry 47, 704-709 (1984). (Pubitemid 14075414)
    • (1984) Journal of Neurology Neurosurgery and Psychiatry , vol.47 , Issue.7 , pp. 704-709
    • Narbona, J.1    Obeso, J.A.2    Tunon, T.3
  • 42
    • 0021826543 scopus 로고
    • The anatomical basis of symptomatic hemidystonia
    • Marsden, C. D., Obeso, J. A., Zarranz, J. J. & Lang, A. E. The anatomical basis of symptomatic hemidystonia. Brain 108, 463-483 (1985). (Pubitemid 15064805)
    • (1985) Brain , vol.108 , Issue.2 , pp. 463-483
    • Marsden, C.D.1    Obeso, J.A.2    Zarranz, J.J.3    Lang, A.E.4
  • 43
    • 0021331123 scopus 로고
    • Pure hemidystonia with basal ganglion abnormalities on positron emision tomography
    • DOI 10.1002/ana.410150303
    • Perlmutter, J. S. & Raichle, M. E. Pure hemidystonia with basal ganglion abnormalities on positron emission tomography. Ann. Neurol. 15, 228-233 (1984). (Pubitemid 14164736)
    • (1984) Annals of Neurology , vol.15 , Issue.3 , pp. 228-233
    • Perlmutter, J.S.1    Raichle, M.E.2
  • 46
    • 0038123157 scopus 로고    scopus 로고
    • Impaired sequence learning in carriers of the DYT1 dystonia mutation
    • Ghilardi, M. F. et al. Impaired sequence learning in carriers of the DYT1 dystonia mutation. Ann. Neurol. 54, 102-109 (2003).
    • (2003) Ann. Neurol. , vol.54 , pp. 102-109
    • Ghilardi, M.F.1
  • 47
    • 64349090856 scopus 로고    scopus 로고
    • Mutations in THAP1 (DYT6) in early-onset dystonia: A genetic screening study
    • Bressman, S. B. et al. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol. 8, 441-446 (2009).
    • (2009) Lancet Neurol. , vol.8 , pp. 441-446
    • Bressman, S.B.1
  • 48
    • 77949372189 scopus 로고    scopus 로고
    • THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
    • Houlden, H. et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 74, 846-850 (2010).
    • (2010) Neurology , vol.74 , pp. 846-850
    • Houlden, H.1
  • 49
    • 67749110057 scopus 로고    scopus 로고
    • The monogenic primary dystonias
    • Muller, U. The monogenic primary dystonias. Brain 132, 2005-2025 (2009).
    • (2009) Brain , vol.132 , pp. 2005-2025
    • Muller, U.1
  • 50
    • 67651156095 scopus 로고    scopus 로고
    • Complicated recessive dystonia parkinsonism syndromes
    • Schneider, S. A., Bhatia, K. P. & Hardy, J. Complicated recessive dystonia parkinsonism syndromes. Mov. Disord. 24, 490-499 (2009).
    • (2009) Mov. Disord. , vol.24 , pp. 490-499
    • Schneider, S.A.1    Bhatia, K.P.2    Hardy, J.3
  • 51
    • 67651183916 scopus 로고    scopus 로고
    • Myoclonus-dystonia: An update
    • Kinugawa, K. et al. Myoclonus-dystonia: an update. Mov. Disord. 24, 479-489 (2009).
    • (2009) Mov. Disord. , vol.24 , pp. 479-489
    • Kinugawa, K.1
  • 57
    • 84862786818 scopus 로고    scopus 로고
    • Focal hand dystonia secondary to Basal Ganglia germinoma
    • Kim, J. S. et al. Focal hand dystonia secondary to Basal Ganglia germinoma. J. Clin. Neurol. 3, 150-153 (2007).
    • (2007) J. Clin. Neurol. , vol.3 , pp. 150-153
    • Kim, J.S.1
  • 58
    • 0028017280 scopus 로고
    • Movement disorders following lesions of the thalamus or subthalamic region
    • Lee, M. S. & Marsden, C. D. Movement disorders following lesions of the thalamus or subthalamic region. Mov. Disord. 9, 493-507 (1994). (Pubitemid 24275065)
    • (1994) Movement Disorders , vol.9 , Issue.5 , pp. 493-507
    • Lee, M.S.1    Marsden, C.D.2
  • 59
    • 0033828558 scopus 로고    scopus 로고
    • A lesion of the anterior thalamus producing dystonic tremor of the hand
    • Cho, C. & Samkoff, L. M. A lesion of the anterior thalamus producing dystonic tremor of the hand. Arch. Neurol. 57, 1353-1355 (2000).
    • (2000) Arch. Neurol. , vol.57 , pp. 1353-1355
    • Cho, C.1    Samkoff, L.M.2
  • 60
    • 43149115142 scopus 로고    scopus 로고
    • Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia-A new metabolic disorder
    • Tuschl, K. et al. Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia-A new metabolic disorder. J. Inherit. Metab. Dis. 31, 151-163 (2008).
    • (2008) J. Inherit. Metab. Dis. , vol.31 , pp. 151-163
    • Tuschl, K.1
  • 61
    • 0025563350 scopus 로고
    • The neurotoxicology and pathology of organomercury, organolead, and organotin
    • Chang, L. W. The neurotoxicology and pathology of organomercury, organolead, and organotin. J. Toxicol. Sci. 15 (Suppl. 1), 125-151 (1990).
    • (1990) J. Toxicol. Sci. , vol.15 , Issue.SUPPL. 1 , pp. 125-151
    • Chang, L.W.1
  • 62
    • 0026809862 scopus 로고
    • Neurological disorders in 166 patients with basal ganglia calcification: A statistical evaluation
    • Forstl, H., Krumm, B., Eden, S. & Kohlmeyer, K. Neurological disorders in 166 patients with basal ganglia calcification: a statistical evaluation. J. Neurol. 239, 36-38 (1992).
    • (1992) J. Neurol. , vol.239 , pp. 36-38
    • Forstl, H.1    Krumm, B.2    Eden, S.3    Kohlmeyer, K.4
  • 63
    • 0033358650 scopus 로고    scopus 로고
    • Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease)
    • DOI 10.1086/302558
    • Geschwind, D. H., Loginov, M. & Stern, J. M. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am. J. Hum. Genet. 65, 764-772 (1999). (Pubitemid 30468722)
    • (1999) American Journal of Human Genetics , vol.65 , Issue.3 , pp. 764-772
    • Geschwind, D.H.1    Loginov, M.2    Stern, J.M.3
  • 64
    • 37849188393 scopus 로고    scopus 로고
    • Secondary cervical dystonia in iatrogenic hypoparathyroidism associated with extensive brain calcifications
    • Mancini, F. et al. Secondary cervical dystonia in iatrogenic hypoparathyroidism associated with extensive brain calcifications. Funct. Neurol. 21, 165-166 (2006).
    • (2006) Funct. Neurol. , vol.21 , pp. 165-166
    • Mancini, F.1
  • 66
    • 62149099955 scopus 로고    scopus 로고
    • Clinical and genetic delineation of neurodegeneration with brain iron accumulation
    • Gregory, A., Polster, B. J. & Hayflick, S. J. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J. Med. Genet. 46, 73-80 (2009).
    • (2009) J. Med. Genet. , vol.46 , pp. 73-80
    • Gregory, A.1    Polster, B.J.2    Hayflick, S.J.3
  • 67
    • 33747404210 scopus 로고    scopus 로고
    • Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations
    • Hayflick, S. J., Hartman, M., Coryell, J., Gitschier, J. & Rowley, H. Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am. J. Neuroradiol. 27, 1230-1233 (2006). (Pubitemid 44897631)
    • (2006) American Journal of Neuroradiology , vol.27 , Issue.6 , pp. 1230-1233
    • Hayflick, S.J.1    Hartman, M.2    Coryell, J.3    Gitschier, J.4    Rowley, H.5
  • 71
    • 0036221829 scopus 로고    scopus 로고
    • A case of aceruloplasminaemia: Abnormal serum ceruloplasmin protein without ferroxidase activity
    • Takeuchi, Y. et al. A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity. J. Neurol. Neurosurg. Psychiatry 72, 543-545 (2002).
    • (2002) J. Neurol. Neurosurg. Psychiatry , vol.72 , pp. 543-545
    • Takeuchi, Y.1
  • 72
    • 48049107099 scopus 로고    scopus 로고
    • The neurological presentation of ceruloplasmin gene mutations
    • McNeill, A., Pandolfo, M., Kuhn, J., Shang, H. & Miyajima, H. The neurological presentation of ceruloplasmin gene mutations. Eur. Neurol. 60, 200-205 (2008).
    • (2008) Eur. Neurol. , vol.60 , pp. 200-205
    • McNeill, A.1    Pandolfo, M.2    Kuhn, J.3    Shang, H.4    Miyajima, H.5
  • 73
    • 0033709765 scopus 로고    scopus 로고
    • Clinical report of three patients with hereditary hemochromatosis and movement disorders
    • Demarquay, G. et al. Clinical report of three patients with hereditary hemochromatosis and movement disorders. Mov. Disord. 15, 1204-1209 (2000).
    • (2000) Mov. Disord. , vol.15 , pp. 1204-1209
    • Demarquay, G.1
  • 75
  • 76
    • 14244260491 scopus 로고    scopus 로고
    • Wilson disease in septuagenarian siblings: Raising the bar for diagnosis
    • DOI 10.1002/hep.20601
    • Ala, A., Borjigin, J., Rochwarger, A. & Schilsky, M. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology 41, 668-670 (2005). (Pubitemid 40289516)
    • (2005) Hepatology , vol.41 , Issue.3 , pp. 668-670
    • Ala, A.1    Borjigin, J.2    Rochwarger, A.3    Schilsky, M.4
  • 77
  • 78
    • 33746917117 scopus 로고    scopus 로고
    • Movement disorders associated with hyperthyroidism: Expanding the phenotype
    • Tan, E. K. & Chan, L. L. Movement disorders associated with hyperthyroidism: expanding the phenotype. Mov. Disord. 21, 1054-1055 (2006).
    • (2006) Mov. Disord. , vol.21 , pp. 1054-1055
    • Tan, E.K.1    Chan, L.L.2
  • 80
    • 7244232716 scopus 로고    scopus 로고
    • Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: Anticholinergic drugs and botulinum toxin as additional therapeutic options
    • DOI 10.1023/B:BOLI.0000045776.50573.52
    • Burlina, A. P., Zara, G., Hoffmann, G. F., Zschocke, J. & Burlina, A. B. Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options. J. Inherit Metab. Dis. 27, 911-915 (2004). (Pubitemid 39433627)
    • (2004) Journal of Inherited Metabolic Disease , vol.27 , Issue.6 , pp. 911-915
    • Burlina, A.P.1    Zara, G.2    Hoffmann, G.F.3    Zschocke, J.4    Burlina, A.B.5
  • 81
    • 39049126490 scopus 로고    scopus 로고
    • Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
    • Torres, R. J. & Puig, J. G. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J. Rare Dis. 2, 48 (2007).
    • (2007) Orphanet J. Rare Dis. , vol.2 , pp. 48
    • Torres, R.J.1    Puig, J.G.2
  • 83
    • 76149087434 scopus 로고    scopus 로고
    • Inherited metabolic disorders and stroke part 2: Homocystinuria, organic acidurias, and urea cycle disorders
    • Testai, F. D. & Gorelick, P. B. Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. Arch. Neurol. 67, 148-153.
    • Arch. Neurol. , vol.67 , pp. 148-153
    • Testai, F.D.1    Gorelick, P.B.2
  • 85
    • 0026073577 scopus 로고
    • Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases
    • Hardie, R. J. et al. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 114, 13-49 (1991).
    • (1991) Brain , vol.114 , pp. 13-49
    • Hardie, R.J.1
  • 87
    • 79953769335 scopus 로고    scopus 로고
    • Demonstration of striatopallidal iron deposition in chorea-acanthocytosis by susceptibility-weighted imaging
    • Lee, J. H., Lee, S. M. & Baik, S. K. Demonstration of striatopallidal iron deposition in chorea-acanthocytosis by susceptibility-weighted imaging. J. Neurol. 258, 321-322 (2010)
    • (2010) J. Neurol. , vol.258 , pp. 321-322
    • Lee, J.H.1    Lee, S.M.2    Baik, S.K.3
  • 88
    • 0035084427 scopus 로고    scopus 로고
    • Acanthocytosis and neurological disorders
    • DOI 10.1007/s004150170241
    • Stevenson, V. L. & Hardie, R. J. Acanthocytosis and neurological disorders. J. Neurol. 248, 87-94 (2001). (Pubitemid 32245417)
    • (2001) Journal of Neurology , vol.248 , Issue.2 , pp. 87-94
    • Stevenson, V.L.1    Hardie, R.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.