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Volumn 23, Issue 13, 2008, Pages 1812-1819

Motor cortical physiology in patients and asymptomatic carriers of parkin gene mutations

Author keywords

Carrier asymptomatic; Neurophysiology; Parkin; Parkinson's disease Parkinsonism; TMS

Indexed keywords

6 FLUORODOPA F 18; DOPAMINE RECEPTOR STIMULATING AGENT; PARKIN;

EID: 57049153993     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22025     Document Type: Article
Times cited : (29)

References (31)
  • 1
    • 0032499264 scopus 로고    scopus 로고
    • Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    • Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608.
    • (1998) Nature , vol.392 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Hattori, N.3
  • 2
    • 0035849493 scopus 로고    scopus 로고
    • Parkin gene causing benign autosomal recessive juvenile parkinsonism
    • Nisipeanu P, Inzelberg R, Abo MS, et al. Parkin gene causing benign autosomal recessive juvenile parkinsonism. Neurology 2001;56:1573-1575.
    • (2001) Neurology , vol.56 , pp. 1573-1575
    • Nisipeanu, P.1    Inzelberg, R.2    Abo, M.S.3
  • 3
    • 0033849550 scopus 로고    scopus 로고
    • Autosomal recessive early-onset parkinsonism with diurnal fluctuation: Clinicopathologic characteristics and molecular genetic identification
    • Yamamura Y, Hattori N, Matsumine H, Kuzuhara S, Mizuno Y. Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification. Brain Dev 2000;22 (Suppl 1):S87-S91.
    • (2000) Brain Dev , vol.22 , Issue.SUPPL. 1
    • Yamamura, Y.1    Hattori, N.2    Matsumine, H.3    Kuzuhara, S.4    Mizuno, Y.5
  • 4
    • 1842475898 scopus 로고    scopus 로고
    • Olfaction differentiates parkin disease from early-onset parkinsonism and Parkinson disease
    • Khan NL, Katzenschlager R, Watt H, et al. Olfaction differentiates parkin disease from early-onset parkinsonism and Parkinson disease. Neurology 2004;62:1224-1226.
    • (2004) Neurology , vol.62 , pp. 1224-1226
    • Khan, N.L.1    Katzenschlager, R.2    Watt, H.3
  • 5
    • 0033814671 scopus 로고    scopus 로고
    • An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene
    • Hayashi S, Wakabayashi K, Ishikawa A, et al. An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene. Mov Disord 2000;15:884-888.
    • (2000) Mov Disord , vol.15 , pp. 884-888
    • Hayashi, S.1    Wakabayashi, K.2    Ishikawa, A.3
  • 6
    • 0031721141 scopus 로고    scopus 로고
    • Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q
    • Mori H, Kondo T, Yokochi M, et al. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 1998;51:890-892.
    • (1998) Neurology , vol.51 , pp. 890-892
    • Mori, H.1    Kondo, T.2    Yokochi, M.3
  • 7
    • 0033933192 scopus 로고    scopus 로고
    • Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype
    • Klein C, Pramstaller PP, Kis B, et al. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000;48:65-71.
    • (2000) Ann Neurol , vol.48 , pp. 65-71
    • Klein, C.1    Pramstaller, P.P.2    Kis, B.3
  • 8
    • 0037461335 scopus 로고    scopus 로고
    • New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism
    • Rawal N, Periquet M, Lohmann E, et al. New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism. Neurology 2003;60:1378-1381.
    • (2003) Neurology , vol.60 , pp. 1378-1381
    • Rawal, N.1    Periquet, M.2    Lohmann, E.3
  • 9
    • 0345490853 scopus 로고    scopus 로고
    • A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's disease genetics study group and the European consortium on genetic susceptibility in Parkinson's disease
    • Abbas N, Lucking CB, Ricard S, et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's disease genetics study group and the European consortium on genetic susceptibility in Parkinson's disease. Hum Mol Genet 1999;8:567-574.
    • (1999) Hum Mol Genet , vol.8 , pp. 567-574
    • Abbas, N.1    Lucking, C.B.2    Ricard, S.3
  • 10
    • 0342368772 scopus 로고    scopus 로고
    • Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's disease genetics study group
    • Lucking CB, Durr A, Bonifati V, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's disease genetics study group. N Engl J Med 2000;342:1560-1567.
    • (2000) N Engl J Med , vol.342 , pp. 1560-1567
    • Lucking, C.B.1    Durr, A.2    Bonifati, V.3
  • 11
    • 0037423745 scopus 로고    scopus 로고
    • Identification of a novel gene linked to parkin via a bi-directional promoter
    • West AB, Lockhart PJ, O'Farell C, Farrer MJ. Identification of a novel gene linked to parkin via a bi-directional promoter. J Mol Biol 2003;326:11-19.
    • (2003) J Mol Biol , vol.326 , pp. 11-19
    • West, A.B.1    Lockhart, P.J.2    O'Farell, C.3    Farrer, M.J.4
  • 12
    • 7244261867 scopus 로고    scopus 로고
    • Distribution, type, and origin of Parkin mutations: Review and case studies
    • Hedrich K, Eskelson C, Wilmot B J, et al. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 2004;19:1146-1157.
    • (2004) Mov Disord , vol.19 , pp. 1146-1157
    • Hedrich, K.1    Eskelson, C.2    Wilmot, B.J.3
  • 13
    • 0037134095 scopus 로고    scopus 로고
    • The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: Evidence for enzymatic parkin function in humans
    • Hilker R, Klein C, Hedrich KK, et al. The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans. Neurosci Lett 2002;323:50-54.
    • (2002) Neurosci Lett , vol.323 , pp. 50-54
    • Hilker, R.1    Klein, C.2    Hedrich, K.K.3
  • 14
    • 11444265305 scopus 로고    scopus 로고
    • Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation
    • Khan NL, Scherfler C, Graham E, et al. Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation. Neurology 2005;64:134-136.
    • (2005) Neurology , vol.64 , pp. 134-136
    • Khan, N.L.1    Scherfler, C.2    Graham, E.3
  • 15
    • 0036122771 scopus 로고    scopus 로고
    • Transcranial magnetic stimulation and Parkinson's disease
    • Cantello R, Tarletti R, Civardi C. Transcranial magnetic stimulation and Parkinson's disease. Brain Res Brain Res Rev 2002;38: 309-327.
    • (2002) Brain Res Brain Res Rev , vol.38 , pp. 309-327
    • Cantello, R.1    Tarletti, R.2    Civardi, C.3
  • 16
    • 84874913507 scopus 로고    scopus 로고
    • Neurophysiological evidence of corticospinal tract abnormality in patients with parkin mutations
    • De Rosa A, Volpe G, Marcantonio L, et al. Neurophysiological evidence of corticospinal tract abnormality in patients with parkin mutations. J Neurol 2006;253:275-279.
    • (2006) J Neurol , vol.253 , pp. 275-279
    • De Rosa, A.1    Volpe, G.2    Marcantonio, L.3
  • 17
    • 36348941061 scopus 로고    scopus 로고
    • Sensorimotor integration is abnormal in asymptomatic parkin mutation carriers - a TMS study
    • Baumer T, Pramstaller PP, Siebner H, et al. Sensorimotor integration is abnormal in asymptomatic parkin mutation carriers - a TMS study. Neurology 2007;69:1976-1981.
    • (2007) Neurology , vol.69 , pp. 1976-1981
    • Baumer, T.1    Pramstaller, P.P.2    Siebner, H.3
  • 18
    • 20244367440 scopus 로고    scopus 로고
    • Effects of lorazepam on short latency afferent inhibition and short latency intracortical inhibition in humans
    • Di Lazarro V, Oliviero A, Saturno E, et al. Effects of lorazepam on short latency afferent inhibition and short latency intracortical inhibition in humans. J Physiol 2005;564:661-668.
    • (2005) J Physiol , vol.564 , pp. 661-668
    • Di Lazarro, V.1    Oliviero, A.2    Saturno, E.3
  • 19
    • 33846437442 scopus 로고    scopus 로고
    • Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers
    • Edwards MJ, Huang YZ, Mir P, Rothwell JC, Bhatia KP. Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers. Mov Disord 2006;21:2181-2186.
    • (2006) Mov Disord , vol.21 , pp. 2181-2186
    • Edwards, M.J.1    Huang, Y.Z.2    Mir, P.3    Rothwell, J.C.4    Bhatia, K.P.5
  • 20
    • 0038662544 scopus 로고    scopus 로고
    • Parkin disease: A phenotypic study of a large case series
    • Khan NL, Graham E, Critchley P, et al. Parkin disease: a phenotypic study of a large case series. Brain 2003;126:1279-1292.
    • (2003) Brain , vol.126 , pp. 1279-1292
    • Khan, N.L.1    Graham, E.2    Critchley, P.3
  • 21
    • 0030873488 scopus 로고    scopus 로고
    • Techniques and mechanisms of action of transcranial stimulation of the human motor cortex
    • Rothwell JC. Techniques and mechanisms of action of transcranial stimulation of the human motor cortex. J Neurosci Methods 1997;74:113-122.
    • (1997) J Neurosci Methods , vol.74 , pp. 113-122
    • Rothwell, J.C.1
  • 22
    • 1842455346 scopus 로고    scopus 로고
    • The cortical silent period: Intrinsic variability and relation to the waveform of the transcranial magnetic stimulation pulse
    • Orth M, Rothwell JC. The cortical silent period: intrinsic variability and relation to the waveform of the transcranial magnetic stimulation pulse. Clin Neurophysiol 2004;115:1076-1082.
    • (2004) Clin Neurophysiol , vol.115 , pp. 1076-1082
    • Orth, M.1    Rothwell, J.C.2
  • 24
    • 0026264365 scopus 로고
    • Physiological studies of electric and magnetic stimulation of the human brain
    • Rothwell JC. Physiological studies of electric and magnetic stimulation of the human brain. Electroencephalogr Clin Neurophysiol Suppl 1991;43:29-35.
    • (1991) Electroencephalogr Clin Neurophysiol Suppl , vol.43 , pp. 29-35
    • Rothwell, J.C.1
  • 25
    • 0030925873 scopus 로고    scopus 로고
    • Sensory and motor evoked potentials in multiple system atrophy: A comparative study with Parkinson's disease
    • Abbruzzese G, Marchese R, Trompetto C. Sensory and motor evoked potentials in multiple system atrophy: a comparative study with Parkinson's disease. Mov Disord 1997;12:315-321.
    • (1997) Mov Disord , vol.12 , pp. 315-321
    • Abbruzzese, G.1    Marchese, R.2    Trompetto, C.3
  • 26
    • 0036421769 scopus 로고    scopus 로고
    • Applications of transcranial magnetic stimulation in movement disorders
    • Cantello R. Applications of transcranial magnetic stimulation in movement disorders. J Clin Neurophysiol 2002;19:272-273.
    • (2002) J Clin Neurophysiol , vol.19 , pp. 272-273
    • Cantello, R.1
  • 27
    • 0028859785 scopus 로고
    • Changes in excitability of motor cortical circuitry in patients with Parkinson's disease
    • Ridding MC, Inzelberg R, Rothwell JC. Changes in excitability of motor cortical circuitry in patients with Parkinson's disease. Ann Neurol 1995;37:181-188.
    • (1995) Ann Neurol , vol.37 , pp. 181-188
    • Ridding, M.C.1    Inzelberg, R.2    Rothwell, J.C.3
  • 28
    • 25444496106 scopus 로고    scopus 로고
    • Motor reorganization in asymptomatic carriers of a single mutant parkin allele: A human model for presymptomatic parkinsonism
    • Buhmann C, Binkofski F, Klein C, et al. Motor reorganization in asymptomatic carriers of a single mutant parkin allele: a human model for presymptomatic parkinsonism. Brain 2005;128:2281-2290.
    • (2005) Brain , vol.128 , pp. 2281-2290
    • Buhmann, C.1    Binkofski, F.2    Klein, C.3
  • 29
    • 0027367448 scopus 로고
    • Corticocortical inhibition in human motor cortex
    • Kujirai T, Caramia MD, Rothwell JC, et al. Corticocortical inhibition in human motor cortex. J Physiol London 1993;471:501-519.
    • (1993) J Physiol London , vol.471 , pp. 501-519
    • Kujirai, T.1    Caramia, M.D.2    Rothwell, J.C.3
  • 30
    • 33746224277 scopus 로고    scopus 로고
    • Arm function after stroke: Neurophysiological correlates and recovery mechanisms assessed by transcranial magnetic stimulation
    • Talelli P, Greenwood RJ, Rothwell JC. Arm function after stroke: neurophysiological correlates and recovery mechanisms assessed by transcranial magnetic stimulation. Clin Neurophysiol 2006;117:1641-1659.
    • (2006) Clin Neurophysiol , vol.117 , pp. 1641-1659
    • Talelli, P.1    Greenwood, R.J.2    Rothwell, J.C.3
  • 31
    • 33748542269 scopus 로고    scopus 로고
    • Associative plasticity in human motor cortex during voluntary muscle contraction
    • Kujirai K, Kujirai T, Sinkjaer T, Rothwell JC. Associative plasticity in human motor cortex during voluntary muscle contraction. J Neurophysiol 2006;96:1337-1346.
    • (2006) J Neurophysiol , vol.96 , pp. 1337-1346
    • Kujirai, K.1    Kujirai, T.2    Sinkjaer, T.3    Rothwell, J.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.