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Volumn 18, Issue 4, 2008, Pages 299-305

Familial aggregation of white matter lesions in myotonic dystrophy type 1

Author keywords

Brain; Cross sectional studies; Magnetic resonance imaging; Myotonic dystrophy

Indexed keywords

REPETITIVE DNA;

EID: 42649103290     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.01.008     Document Type: Article
Times cited : (17)

References (39)
  • 1
    • 0001125916 scopus 로고    scopus 로고
    • The International Myotonic Dystrophy Consortium (IDMC). New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology 2000; 54:1218-21.
    • The International Myotonic Dystrophy Consortium (IDMC). New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology 2000; 54:1218-21.
  • 3
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook J.D., McCurrach M.E., Harley H.G., et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68 (1992) 799-808
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3
  • 4
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu Y.H., Pizzuti Jr. A., Fenwick R.G., et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255 (1992) 1256-1258
    • (1992) Science , vol.255 , pp. 1256-1258
    • Fu, Y.H.1    Pizzuti Jr., A.2    Fenwick, R.G.3
  • 5
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene
    • Mahadaven M., Tsilfidis C., Sabourin L., et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255 (1992) 1253-1255
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadaven, M.1    Tsilfidis, C.2    Sabourin, L.3
  • 6
    • 0032993793 scopus 로고    scopus 로고
    • Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients
    • Gennarelli M., Pavoni M., Amicucci P., et al. Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients. Neuromuscul Disord 9 (1999) 215-219
    • (1999) Neuromuscul Disord , vol.9 , pp. 215-219
    • Gennarelli, M.1    Pavoni, M.2    Amicucci, P.3
  • 7
    • 15044354661 scopus 로고    scopus 로고
    • RNA pathogenesis of the myotonic dystrophies
    • Day J.W., and Ranum L.P. RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord 15 (2005) 5-16
    • (2005) Neuromuscul Disord , vol.15 , pp. 5-16
    • Day, J.W.1    Ranum, L.P.2
  • 8
    • 38049023691 scopus 로고    scopus 로고
    • Myotonic dystrophy 1 in the nervous system: from the clinic to molecular mechanisms
    • de León M.B., and Cisneros B. Myotonic dystrophy 1 in the nervous system: from the clinic to molecular mechanisms. J Neurosci Res 86 (2007) 18-26
    • (2007) J Neurosci Res , vol.86 , pp. 18-26
    • de León, M.B.1    Cisneros, B.2
  • 9
    • 34047160522 scopus 로고    scopus 로고
    • Expression of MBNL and CELF mRNA transcripts in muscles with myotonic dystrophy
    • Nezu Y., Kino Y., Sasagawa N., Nishino I., and Ishiura S. Expression of MBNL and CELF mRNA transcripts in muscles with myotonic dystrophy. Neuromuscul Disord 17 (2007) 306-312
    • (2007) Neuromuscul Disord , vol.17 , pp. 306-312
    • Nezu, Y.1    Kino, Y.2    Sasagawa, N.3    Nishino, I.4    Ishiura, S.5
  • 10
    • 33947127828 scopus 로고    scopus 로고
    • Ribonuclear foci at the neuromuscular junction in myotonic dystrophy type 1
    • Wheeler T.M., Krym M.C., and Thornton C.A. Ribonuclear foci at the neuromuscular junction in myotonic dystrophy type 1. Neuromuscul Disord 17 (2007) 242-247
    • (2007) Neuromuscul Disord , vol.17 , pp. 242-247
    • Wheeler, T.M.1    Krym, M.C.2    Thornton, C.A.3
  • 11
    • 34548207303 scopus 로고    scopus 로고
    • Cerebral involvement in myotonic dystrophies
    • Meola G., and Sansone V. Cerebral involvement in myotonic dystrophies. Muscle Nerve 36 (2007) 294-306
    • (2007) Muscle Nerve , vol.36 , pp. 294-306
    • Meola, G.1    Sansone, V.2
  • 12
    • 33744807443 scopus 로고    scopus 로고
    • DNA structures, repeat expansions and human hereditary disorders
    • Mirkin S.M. DNA structures, repeat expansions and human hereditary disorders. Curr Opin Struct Biol 16 (2006) 351-358
    • (2006) Curr Opin Struct Biol , vol.16 , pp. 351-358
    • Mirkin, S.M.1
  • 13
    • 33744937952 scopus 로고    scopus 로고
    • Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down
    • Gomes-Pereira M., and Moncktonb D.G. Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down. Mutat Res 598 (2006) 15-34
    • (2006) Mutat Res , vol.598 , pp. 15-34
    • Gomes-Pereira, M.1    Moncktonb, D.G.2
  • 15
    • 0032986568 scopus 로고    scopus 로고
    • Myotonic dystrophy associated with QT prolongation and torsade de pointes
    • Umeda Y., Ikeda U., Yamamoto J., et al. Myotonic dystrophy associated with QT prolongation and torsade de pointes. Clin Cardiol 22 (1999) 136-138
    • (1999) Clin Cardiol , vol.22 , pp. 136-138
    • Umeda, Y.1    Ikeda, U.2    Yamamoto, J.3
  • 16
    • 0042425956 scopus 로고    scopus 로고
    • Familial left ventricular hypertrabeculation in myotonic dystrophy type 1
    • Finsterer J., Stöllberger C., and Kopsa W. Familial left ventricular hypertrabeculation in myotonic dystrophy type 1. Herz 28 (2003) 466-470
    • (2003) Herz , vol.28 , pp. 466-470
    • Finsterer, J.1    Stöllberger, C.2    Kopsa, W.3
  • 17
    • 17144467274 scopus 로고    scopus 로고
    • Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy
    • Seijo-Marti{dotless}́nez M., Castro del Ri{dotless}́o M., Campos Y., et al. Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy. J Neurol Sci 208 (2003) 87-91
    • (2003) J Neurol Sci , vol.208 , pp. 87-91
    • Seijo-Martínez, M.1    Castro del Río, M.2    Campos, Y.3
  • 18
    • 19544382873 scopus 로고    scopus 로고
    • Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1
    • Groh W.J., Lowe M.R., Simmons Z., Bhakta D., and Pascuzzi R.M. Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1. Muscle Nerve 31 (2005) 719-724
    • (2005) Muscle Nerve , vol.31 , pp. 719-724
    • Groh, W.J.1    Lowe, M.R.2    Simmons, Z.3    Bhakta, D.4    Pascuzzi, R.M.5
  • 19
    • 0027209572 scopus 로고
    • Cerebral abnormalities in myotonic dystrophy. Cerebral blood flow, magnetic resonance imaging, and neuropsychological tests
    • Chang L., Anderson T., Migneco O.A., et al. Cerebral abnormalities in myotonic dystrophy. Cerebral blood flow, magnetic resonance imaging, and neuropsychological tests. Arch Neurol 50 (1993) 917-923
    • (1993) Arch Neurol , vol.50 , pp. 917-923
    • Chang, L.1    Anderson, T.2    Migneco, O.A.3
  • 20
    • 0028007281 scopus 로고
    • Involvement of the central nervous system in myotonic dystrophy
    • Abe K., Fujimura H., Toyooka K., et al. Involvement of the central nervous system in myotonic dystrophy. J Neurol Sci 27 (1994) 179-185
    • (1994) J Neurol Sci , vol.27 , pp. 179-185
    • Abe, K.1    Fujimura, H.2    Toyooka, K.3
  • 21
    • 0028129309 scopus 로고
    • Brain involvement in myotonic dystrophy: MRI features and their relationship to clinical and cognitive conditions
    • Censori B., Provinciali L., Danni M., et al. Brain involvement in myotonic dystrophy: MRI features and their relationship to clinical and cognitive conditions. Acta Neurol Scand 90 (1994) 211-217
    • (1994) Acta Neurol Scand , vol.90 , pp. 211-217
    • Censori, B.1    Provinciali, L.2    Danni, M.3
  • 23
    • 0031847991 scopus 로고    scopus 로고
    • Anterior temporal white matter lesions in myotonic dystrophy with intellectual impairment: an MRI and neuropathological study
    • Ogata A., Terae S., Fujita M., and Tashiro K. Anterior temporal white matter lesions in myotonic dystrophy with intellectual impairment: an MRI and neuropathological study. Neuroradiology 40 (1998) 411-415
    • (1998) Neuroradiology , vol.40 , pp. 411-415
    • Ogata, A.1    Terae, S.2    Fujita, M.3    Tashiro, K.4
  • 24
    • 0032895720 scopus 로고    scopus 로고
    • Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy
    • Martinello F., Piazza A., Pastorello E., Angelini C., and Trevisan C.P. Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy. J Neurol 246 (1999) 186-192
    • (1999) J Neurol , vol.246 , pp. 186-192
    • Martinello, F.1    Piazza, A.2    Pastorello, E.3    Angelini, C.4    Trevisan, C.P.5
  • 25
    • 0036258695 scopus 로고    scopus 로고
    • Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: case-control study
    • Di Costanzo A., Di Salle F., Santoro L., Bonavita V., and Tedeschi G. Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: case-control study. Neuromuscul Disord 12 (2002) 476-483
    • (2002) Neuromuscul Disord , vol.12 , pp. 476-483
    • Di Costanzo, A.1    Di Salle, F.2    Santoro, L.3    Bonavita, V.4    Tedeschi, G.5
  • 26
    • 0036037766 scopus 로고    scopus 로고
    • Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: an MRI study
    • Di Costanzo A., Di Salle F., Santoro L., Tessitore A., Bonavita V., and Tedeschi G. Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: an MRI study. J Neurol 249 (2002) 1175-1182
    • (2002) J Neurol , vol.249 , pp. 1175-1182
    • Di Costanzo, A.1    Di Salle, F.2    Santoro, L.3    Tessitore, A.4    Bonavita, V.5    Tedeschi, G.6
  • 27
    • 3042631047 scopus 로고    scopus 로고
    • Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2
    • Kornblum C., Reul J., Kress W., et al. Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2. J Neurol 251 (2004) 710-714
    • (2004) J Neurol , vol.251 , pp. 710-714
    • Kornblum, C.1    Reul, J.2    Kress, W.3
  • 28
    • 18044363273 scopus 로고    scopus 로고
    • Brain magnetic resonance image changes in a family with congenital and classic myotonic dystrophy
    • Kuo H.C., Hsiao K.M., Chen C.J., Hsieh Y.C., and Huang C.C. Brain magnetic resonance image changes in a family with congenital and classic myotonic dystrophy. Brain Dev 27 (2005) 291-296
    • (2005) Brain Dev , vol.27 , pp. 291-296
    • Kuo, H.C.1    Hsiao, K.M.2    Chen, C.J.3    Hsieh, Y.C.4    Huang, C.C.5
  • 29
    • 33845643703 scopus 로고    scopus 로고
    • Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities
    • Giorgio A., Dotti M.T., Battaglini M., et al. Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities. J Neurol 11 (2006) 1432-1459
    • (2006) J Neurol , vol.11 , pp. 1432-1459
    • Giorgio, A.1    Dotti, M.T.2    Battaglini, M.3
  • 30
    • 0035852861 scopus 로고    scopus 로고
    • Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy
    • Mathieu J., Boivin H., Meunier D., Gaudreault M., and Bégin P. Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology 56 (2001) 336-340
    • (2001) Neurology , vol.56 , pp. 336-340
    • Mathieu, J.1    Boivin, H.2    Meunier, D.3    Gaudreault, M.4    Bégin, P.5
  • 31
    • 0027339590 scopus 로고
    • A semiquantitative rating scale for the assessment of signal hyperintensities on magnetic resonance imaging
    • Scheltens P., Barkhof F., Leys D., et al. A semiquantitative rating scale for the assessment of signal hyperintensities on magnetic resonance imaging. J Neurol Sci 114 (1993) 7-12
    • (1993) J Neurol Sci , vol.114 , pp. 7-12
    • Scheltens, P.1    Barkhof, F.2    Leys, D.3
  • 32
    • 11044233708 scopus 로고    scopus 로고
    • Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
    • Jiang H., Mankodi A., Swanson M.S., Moxley R.T., and Thornton C.A. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 13 (2004) 3079-3088
    • (2004) Hum Mol Genet , vol.13 , pp. 3079-3088
    • Jiang, H.1    Mankodi, A.2    Swanson, M.S.3    Moxley, R.T.4    Thornton, C.A.5
  • 33
    • 34548036227 scopus 로고    scopus 로고
    • Tau-mediated neurodegeneration in Alzheimer's disease and related disorders
    • Ballatore C., Lee V.M.-Y., and Trojanowski J.Q. Tau-mediated neurodegeneration in Alzheimer's disease and related disorders. Nat Rev Neurosci 8 (2007) 663-672
    • (2007) Nat Rev Neurosci , vol.8 , pp. 663-672
    • Ballatore, C.1    Lee, V.M.-Y.2    Trojanowski, J.Q.3
  • 34
    • 0034782506 scopus 로고    scopus 로고
    • Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1
    • Sergeant N., Sablonnière B., Schraen-Maschke S., et al. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet 10 (2001) 2143-2155
    • (2001) Hum Mol Genet , vol.10 , pp. 2143-2155
    • Sergeant, N.1    Sablonnière, B.2    Schraen-Maschke, S.3
  • 35
    • 33644779759 scopus 로고    scopus 로고
    • Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1
    • Leroy O., Wang J., Maurage C.A., et al. Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1. Biochim Biophys Acta 1762 (2006) 460-467
    • (2006) Biochim Biophys Acta , vol.1762 , pp. 460-467
    • Leroy, O.1    Wang, J.2    Maurage, C.A.3
  • 36
    • 0029822936 scopus 로고    scopus 로고
    • Specific tau variants in the brains of patients with myotonic dystrophy
    • Vermersch P., Sergeant N., Ruchoux M.M., et al. Specific tau variants in the brains of patients with myotonic dystrophy. Neurology 47 (1996) 711-717
    • (1996) Neurology , vol.47 , pp. 711-717
    • Vermersch, P.1    Sergeant, N.2    Ruchoux, M.M.3
  • 37
    • 42649138258 scopus 로고    scopus 로고
    • Richter-Landsberg C. The cytoskeleton in oligodendrocytes: microtubule dynamics in health and disease. J Mol Neurosci 2007 [Epub ahead of print].
    • Richter-Landsberg C. The cytoskeleton in oligodendrocytes: microtubule dynamics in health and disease. J Mol Neurosci 2007 [Epub ahead of print].
  • 38
    • 18244362122 scopus 로고    scopus 로고
    • Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?
    • Savić D., Topisirović I., Keckarević M., et al. Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?. Psychiatr Genet 11 (2001) 201-205
    • (2001) Psychiatr Genet , vol.11 , pp. 201-205
    • Savić, D.1    Topisirović, I.2    Keckarević, M.3
  • 39
    • 2442478147 scopus 로고    scopus 로고
    • Association of spinal and bulbar muscular atrophy with myotonic dystrophy type 1
    • Jinnai K., Nishimoto K., Itoh K., Hashimoto K., and Takahashi K. Association of spinal and bulbar muscular atrophy with myotonic dystrophy type 1. Muscle Nerve 29 (2004) 729-733
    • (2004) Muscle Nerve , vol.29 , pp. 729-733
    • Jinnai, K.1    Nishimoto, K.2    Itoh, K.3    Hashimoto, K.4    Takahashi, K.5


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