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Volumn 26, Issue 5, 2011, Pages 896-900

A new familial syndrome with dystonia and lower limb action myoclonus

Author keywords

Anticipation; Myoclonus dystonia; Orthostatic myoclonus

Indexed keywords

CLONAZEPAM; DIAZEPAM; ETIRACETAM; VALPROIC ACID;

EID: 79955123713     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23557     Document Type: Article
Times cited : (12)

References (30)
  • 3
    • 17944378309 scopus 로고    scopus 로고
    • Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
    • Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet. 2001; 29: 66-69.
    • (2001) Nat Genet , vol.29 , pp. 66-69
    • Zimprich, A.1    Grabowski, M.2    Asmus, F.3
  • 4
    • 4544352267 scopus 로고    scopus 로고
    • Myoclonus: current concepts and recent advances
    • Caviness JN, Brown P. Myoclonus: current concepts and recent advances. Lancet Neurol. 2004; 3: 598-607.
    • (2004) Lancet Neurol , vol.3 , pp. 598-607
    • Caviness, J.N.1    Brown, P.2
  • 5
    • 1042305452 scopus 로고    scopus 로고
    • Myoclonus and myoclonus-dystonia
    • Pulst S, ed. San Diego, CA: Academic Press.
    • Klein C. Myoclonus and myoclonus-dystonia. In: Pulst S, ed. Genetics of Movement Disorders. San Diego, CA: Academic Press; 2002.
    • (2002) Genetics of Movement Disorders
    • Klein, C.1
  • 6
    • 68349140147 scopus 로고    scopus 로고
    • Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family
    • Foncke EM, Cath D, Zwinderman K, Smit J, Schmand B, Tijssen M. Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family. Cogn Behav Neurol. 2009; 22: 127-133.
    • (2009) Cogn Behav Neurol , vol.22 , pp. 127-133
    • Foncke, E.M.1    Cath, D.2    Zwinderman, K.3    Smit, J.4    Schmand, B.5    Tijssen, M.6
  • 7
    • 33847029189 scopus 로고    scopus 로고
    • Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers
    • Hess CW, Raymond D, Aguiar PC, et al. Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology. 2007; 68: 522-524.
    • (2007) Neurology , vol.68 , pp. 522-524
    • Hess, C.W.1    Raymond, D.2    Aguiar, P.C.3
  • 8
    • 66149112424 scopus 로고    scopus 로고
    • Myoclonus-dystonia: clinical and genetic evaluation of a large cohort
    • Ritz K, Gerrits MC, Foncke EM, et al. Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. J Neurol Neurosurg Psychiatry. 2009; 80: 653-658.
    • (2009) J Neurol Neurosurg Psychiatry , vol.80 , pp. 653-658
    • Ritz, K.1    Gerrits, M.C.2    Foncke, E.M.3
  • 9
    • 0035826884 scopus 로고    scopus 로고
    • A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q
    • Vidailhet M, Tassin J, Durif F, et al. A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q. Neurology. 2001; 56: 1213-1216.
    • (2001) Neurology , vol.56 , pp. 1213-1216
    • Vidailhet, M.1    Tassin, J.2    Durif, F.3
  • 10
    • 10744233866 scopus 로고    scopus 로고
    • Hereditary myoclonus-dystonia associated with epilepsy
    • Foncke EM, Klein C, Koelman JH, et al. Hereditary myoclonus-dystonia associated with epilepsy. Neurology 2003; 60: 1988-1990.
    • (2003) Neurology , vol.60 , pp. 1988-1990
    • Foncke, E.M.1    Klein, C.2    Koelman, J.H.3
  • 11
    • 10744230382 scopus 로고    scopus 로고
    • Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation
    • Marechal L, Raux G, Dumanchin C, et al. Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. Am J Med Genet B Neuropsychiatr. Genet 2003; 119B: 114-117.
    • (2003) Am J Med Genet B Neuropsychiatr. Genet , vol.119 B , pp. 114-117
    • Marechal, L.1    Raux, G.2    Dumanchin, C.3
  • 13
    • 3442887465 scopus 로고    scopus 로고
    • Genetic heterogeneity in ten families with myoclonus-dystonia
    • Schule B, Kock N, Svetel M, et al. Genetic heterogeneity in ten families with myoclonus-dystonia. J Neurol Neurosurg Psychiatry. 2004; 75: 1181-1185.
    • (2004) J Neurol Neurosurg Psychiatry , vol.75 , pp. 1181-1185
    • Schule, B.1    Kock, N.2    Svetel, M.3
  • 14
    • 0000170999 scopus 로고
    • Clinical assessments of patients with cervical dystonia
    • Jankovic J, ed. New York: Marcel Dekker.
    • Consky E., Lang AE. Clinical assessments of patients with cervical dystonia. In: Jankovic J, ed. Therapy with Botulinum Toxin. New York: Marcel Dekker; 1994: 211-237.
    • (1994) Therapy with Botulinum Toxin , pp. 211-237
    • Consky, E.1    Lang, A.E.2
  • 16
    • 34548238690 scopus 로고    scopus 로고
    • Abnormal low frequency drive in myoclonus-dystonia patients correlates with presence of dystonia
    • Foncke EM, Bour LJ, van der Meer JN, Koelman JH, Tijssen MA. Abnormal low frequency drive in myoclonus-dystonia patients correlates with presence of dystonia. Mov Disord. 2007; 22: 1299-1307.
    • (2007) Mov Disord , vol.22 , pp. 1299-1307
    • Foncke, E.M.1    Bour, L.J.2    van der Meer, J.N.3    Koelman, J.H.4    Tijssen, M.A.5
  • 18
    • 34249017259 scopus 로고    scopus 로고
    • Orthostatic myoclonus: a contributor to gait decline in selected elderly
    • Glass GA, Ahlskog JE, Matsumoto JY. Orthostatic myoclonus: a contributor to gait decline in selected elderly. Neurology. 2007; 68: 1826-1830.
    • (2007) Neurology , vol.68 , pp. 1826-1830
    • Glass, G.A.1    Ahlskog, J.E.2    Matsumoto, J.Y.3
  • 19
    • 37549039055 scopus 로고    scopus 로고
    • Myoclonus or tremor in orthostatism: an under-recognized cause of unsteadiness in Parkinson's disease
    • Leu-Semenescu S, Roze E, Vidailhet M, et al. Myoclonus or tremor in orthostatism: an under-recognized cause of unsteadiness in Parkinson's disease. Mov Disord. 2007; 22: 2063-2069.
    • (2007) Mov Disord , vol.22 , pp. 2063-2069
    • Leu-Semenescu, S.1    Roze, E.2    Vidailhet, M.3
  • 20
    • 34347258505 scopus 로고    scopus 로고
    • Diagnosis of nystagmus and saccadic intrusion
    • Leigh RJ, ed. 4th ed. New York, NY: Oxford University Press.
    • Leigh RJ. Diagnosis of nystagmus and saccadic intrusion. In: Leigh RJ, ed. The Neurology of Eye Movements. 4th ed. New York, NY: Oxford University Press; 2006: 475-558.
    • (2006) The Neurology of Eye Movements , pp. 475-558
    • Leigh, R.J.1
  • 21
    • 50849117509 scopus 로고    scopus 로고
    • Oculomotor abnormalities in myoclonic tremor: a comparison with spinocerebellar ataxia type 6
    • Bour LJ, van Rootselaar AF, Koelman JH, Tijssen MA. Oculomotor abnormalities in myoclonic tremor: a comparison with spinocerebellar ataxia type 6. Brain. 2008; 131: 2295-2303.
    • (2008) Brain , vol.131 , pp. 2295-2303
    • Bour, L.J.1    van Rootselaar, A.F.2    Koelman, J.H.3    Tijssen, M.A.4
  • 22
    • 2642691667 scopus 로고    scopus 로고
    • Cerebral and cerebellar activation in correlation to the action-induced dystonia in writer's cramp
    • Odergren T, Stone-Elander S, Ingvar M. Cerebral and cerebellar activation in correlation to the action-induced dystonia in writer's cramp. Mov Disord. 1998; 13: 497-508.
    • (1998) Mov Disord , vol.13 , pp. 497-508
    • Odergren, T.1    Stone-Elander, S.2    Ingvar, M.3
  • 23
    • 0033810860 scopus 로고    scopus 로고
    • The metabolic topography of essential blepharospasm: a focal dystonia with general implications
    • Hutchinson M, Nakamura T, Moeller JR, et al. The metabolic topography of essential blepharospasm: a focal dystonia with general implications. Neurology. 2000; 55: 673-677.
    • (2000) Neurology , vol.55 , pp. 673-677
    • Hutchinson, M.1    Nakamura, T.2    Moeller, J.R.3
  • 24
    • 37549018418 scopus 로고    scopus 로고
    • Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study
    • Carbon M, Ghilardi MF, Argyelan M, Dhawan V, Bressman SB, Eidelberg D. Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study. Brain. 2008; 131: 146-154.
    • (2008) Brain , vol.131 , pp. 146-154
    • Carbon, M.1    Ghilardi, M.F.2    Argyelan, M.3    Dhawan, V.4    Bressman, S.B.5    Eidelberg, D.6
  • 25
    • 77950873397 scopus 로고    scopus 로고
    • Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study
    • Beukers RJ, Foncke EM, van der Meer JN, et al. Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study. Arch Neurol. 2010; 67: 469-474.
    • (2010) Arch Neurol , vol.67 , pp. 469-474
    • Beukers, R.J.1    Foncke, E.M.2    van der Meer, J.N.3
  • 26
    • 0034724141 scopus 로고    scopus 로고
    • Cortical myoclonus and cerebellar pathology
    • Tijssen MA, Thom M, Ellison DW, et al. Cortical myoclonus and cerebellar pathology. Neurology. 2000; 54: 1350-1356.
    • (2000) Neurology , vol.54 , pp. 1350-1356
    • Tijssen, M.A.1    Thom, M.2    Ellison, D.W.3
  • 27
    • 33847109686 scopus 로고    scopus 로고
    • The "enhanced N35" somatosensory evoked potential: its associations and potential utility in the clinical evaluation of dystonia and myoclonus
    • Ng K, Jones S. The "enhanced N35" somatosensory evoked potential: its associations and potential utility in the clinical evaluation of dystonia and myoclonus. J Neurol. 2007; 254: 46-52.
    • (2007) J Neurol , vol.254 , pp. 46-52
    • Ng, K.1    Jones, S.2
  • 28
    • 77952888699 scopus 로고    scopus 로고
    • De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
    • Hoischen A, van Bon BW, Gilissen C, et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010; 42: 483-485.
    • (2010) Nat Genet , vol.42 , pp. 483-485
    • Hoischen, A.1    van Bon, B.W.2    Gilissen, C.3
  • 29
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a mendelian disorder
    • Ng SB, Buckingham KJ, Lee C et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010; 42: 30-35.
    • (2010) Nat Genet , vol.42 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3
  • 30
    • 77951799158 scopus 로고    scopus 로고
    • Analysis of genetic inheritance in a family quartet by whole-genome sequencing
    • Roach JC, Glusman G, Smit AF, et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science. 2010; 328: 636-639.
    • (2010) Science , vol.328 , pp. 636-639
    • Roach, J.C.1    Glusman, G.2    Smit, A.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.