메뉴 건너뛰기




Volumn 29, Issue 3, 2014, Pages 342-348

The central nervous system phenotype of x-linked Charcot-Marie-Tooth disease: A transient disorder of children and young adults

Author keywords

Charcot Marie Tooth disease; connexin 32; GJB1 gene; transient central nervous system symptoms; white matter lesions

Indexed keywords

CHARCOT-MARIE-TOOTH DISEASE; CONNEXIN 32; GJB1 GENE; TRANSIENT CENTRAL NERVOUS SYSTEM SYMPTOMS; WHITE MATTER LESIONS;

EID: 84894440136     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812474343     Document Type: Article
Times cited : (40)

References (25)
  • 1
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth disease
    • Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth disease. Clin Genet. 1974 ; 6: 98-118
    • (1974) Clin Genet , vol.6 , pp. 98-118
    • Skre, H.1
  • 2
    • 79551488413 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth subtypes and genetic testing strategies
    • Saporta ASD, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth subtypes and genetic testing strategies. Ann Neurol. 2011 ; 69: 22-33
    • (2011) Ann Neurol , vol.69 , pp. 22-33
    • Asd, S.1    Sottile, S.L.2    Miller, L.J.3
  • 3
    • 0027772413 scopus 로고
    • Connexin mutations in X-linked Charcot-Marie-Tooth disease
    • Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993 ; 262: 2039-2042
    • (1993) Science , vol.262 , pp. 2039-2042
    • Bergoffen, J.1    Scherer, S.S.2    Wang, S.3
  • 4
    • 0035960628 scopus 로고    scopus 로고
    • Episodes of generalized weakness in two siblings with the C164 T mutation of the connexin 32 gene
    • Panas M, Kalfakis N, Karadimas C, Vassilopoulos D. Episodes of generalized weakness in two siblings with the C164 T mutation of the connexin 32 gene. Neurology. 2001 ; 57: 1906-1908
    • (2001) Neurology , vol.57 , pp. 1906-1908
    • Panas, M.1    Kalfakis, N.2    Karadimas, C.3    Vassilopoulos, D.4
  • 5
    • 0037168798 scopus 로고    scopus 로고
    • Transient white matter lesions in a patient with connexin 32 missense mutation
    • Schelhaas H, van Engelen B, Gabreels-Festen A, et al. Transient white matter lesions in a patient with connexin 32 missense mutation. Neurology. 2002 ; 59: 2007-2008
    • (2002) Neurology , vol.59 , pp. 2007-2008
    • Schelhaas, H.1    Van Engelen, B.2    Gabreels-Festen, A.3
  • 6
    • 0036789828 scopus 로고    scopus 로고
    • Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease
    • Paulson H, Garbern J, Hoban T, et al. Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurology. 2002 ; 52: 429-434
    • (2002) Ann Neurology , vol.52 , pp. 429-434
    • Paulson, H.1    Garbern, J.2    Hoban, T.3
  • 7
    • 0344608882 scopus 로고    scopus 로고
    • Transient recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation
    • Hanemann C, Bergmann C, Senderek J, et al. Transient recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol. 2003 ; 60: 605-609
    • (2003) Arch Neurol , vol.60 , pp. 605-609
    • Hanemann, C.1    Bergmann, C.2    Senderek, J.3
  • 8
    • 0345600908 scopus 로고    scopus 로고
    • The CNS phenotype of X-linked Charcot-Marie-Tooth disease: More than a peripheral problem
    • Taylor R, Simom E, Marks H, Scherer S. The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. Neurology. 2003 ; 61: 1475-1478
    • (2003) Neurology , vol.61 , pp. 1475-1478
    • Taylor, R.1    Simom, E.2    Marks, H.3    Scherer, S.4
  • 9
    • 28044465151 scopus 로고    scopus 로고
    • X-linked Charcot-Marie-Tooth disease and progressive relapsing central demyelinating disease
    • Isoardo G, Di Vito N, Nobile M, Benetton G, Fassio F. X-linked Charcot-Marie-Tooth disease and progressive relapsing central demyelinating disease. Neurology. 2005 ; 65: 1672-1673
    • (2005) Neurology , vol.65 , pp. 1672-1673
    • Isoardo, G.1    Di Vito, N.2    Nobile, M.3    Benetton, G.4    Fassio, F.5
  • 10
    • 40749110254 scopus 로고    scopus 로고
    • Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation
    • Srinivasan J, Leventer RJ, Kornberg AJ, et al. Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation. Pediatr Neurol. 2008 ; 38: 293-295
    • (2008) Pediatr Neurol , vol.38 , pp. 293-295
    • Srinivasan, J.1    Leventer, R.J.2    Kornberg, A.J.3
  • 11
    • 51349156222 scopus 로고    scopus 로고
    • A V139M mutation also causes the reversible CNS phenotype in CMTX
    • Halbrich M, Barnes J, Bunge M, et al. A V139M mutation also causes the reversible CNS phenotype in CMTX. Can J Neurol Sci. 2008 ; 35: 372-374
    • (2008) Can J Neurol Sci , vol.35 , pp. 372-374
    • Halbrich, M.1    Barnes, J.2    Bunge, M.3
  • 12
    • 77954756350 scopus 로고    scopus 로고
    • Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease
    • Rosser T, Muir J, Panigrahy A, et al. Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease. J Child Neurol. 2010 ; 25: 1013-1016
    • (2010) J Child Neurol , vol.25 , pp. 1013-1016
    • Rosser, T.1    Muir, J.2    Panigrahy, A.3
  • 13
    • 77952919228 scopus 로고    scopus 로고
    • Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient
    • Fusco C, Frattini D, Pisani F, et al. Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient. J Child Neurol. 2010 ; 25: 759-763
    • (2010) J Child Neurol , vol.25 , pp. 759-763
    • Fusco, C.1    Frattini, D.2    Pisani, F.3
  • 14
    • 77954644216 scopus 로고    scopus 로고
    • X-linked hereditary motor sensory neuropathy (type 1) presenting with stroke-like episode
    • Anad G, Maheshwari N, Roberts D, et al. X-linked hereditary motor sensory neuropathy (type 1) presenting with stroke-like episode. Dev Med Child Neurol. 2010 ; 52: 677-679
    • (2010) Dev Med Child Neurol , vol.52 , pp. 677-679
    • Anad, G.1    Maheshwari, N.2    Roberts, D.3
  • 15
    • 80555125086 scopus 로고    scopus 로고
    • Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease
    • Basu A, Horvath R, Esisi B, et al. Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease. Neurology. 2011 ; 77: 1205-1206
    • (2011) Neurology , vol.77 , pp. 1205-1206
    • Basu, A.1    Horvath, R.2    Esisi, B.3
  • 16
    • 79953771287 scopus 로고    scopus 로고
    • A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease
    • Sakaguchi H, Yamashita S, Miura A, et al. A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease. J Neurol. 2011 ; 25: 284-290
    • (2011) J Neurol , vol.25 , pp. 284-290
    • Sakaguchi, H.1    Yamashita, S.2    Miura, A.3
  • 17
    • 79953025109 scopus 로고    scopus 로고
    • MRI findings in X-linked Charcot-Marie-Tooth disease associated with a novel connexin mutation
    • U-King-Im JM, Yiu E, Donner EJ, et al. MRI findings in X-linked Charcot-Marie-Tooth disease associated with a novel connexin mutation. Clin Radiol. 2011 ; 66: 471-474
    • (2011) Clin Radiol , vol.66 , pp. 471-474
    • U-King-Im, J.M.1    Yiu, E.2    Donner, E.J.3
  • 18
    • 84866123899 scopus 로고    scopus 로고
    • Clinical reasoning: A young man with reversible paralysis, cerebral white matter lesions, and peripheral neuropathy
    • Zhong L, Yan K, Liu C, et al. Clinical reasoning: a young man with reversible paralysis, cerebral white matter lesions, and peripheral neuropathy. Neurology. 2012 ; 79: e70 - e72
    • (2012) Neurology , vol.79
    • Zhong, L.1    Yan, K.2    Liu, C.3
  • 19
    • 0030035312 scopus 로고    scopus 로고
    • Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brainstem auditory evoked responses
    • Nicholson G, Corbett A. Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brainstem auditory evoked responses. J Neurol Neurosurg Psychiatry. 1996 ; 61: 43-46
    • (1996) J Neurol Neurosurg Psychiatry , vol.61 , pp. 43-46
    • Nicholson, G.1    Corbett, A.2
  • 20
    • 0037167535 scopus 로고    scopus 로고
    • Novel mutation in Charcot-Marie-Tooth disease associated with CNS impairment
    • Kawakami H, InoueSakakihara I, et al. Novel mutation in Charcot-Marie-Tooth disease associated with CNS impairment. Neurology. 2002 ; 59: 923-926
    • (2002) Neurology , vol.59 , pp. 923-926
    • Kawakami, H.1    Inouesakakihara, I.2
  • 21
    • 79951505710 scopus 로고    scopus 로고
    • A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood
    • Yiu EM, Geevasinga N, Nicholson GA, et al. A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. Neurology. 2011 ; 76: 461-466
    • (2011) Neurology , vol.76 , pp. 461-466
    • Yiu, E.M.1    Geevasinga, N.2    Nicholson, G.A.3
  • 22
    • 47349084278 scopus 로고    scopus 로고
    • Simultaneous Guillain-Barre syndrome and acute disseminated encephalomyelitis in the pediatric population
    • Bernard G, Riou E, Rosenblatt B, et al. Simultaneous Guillain-Barre syndrome and acute disseminated encephalomyelitis in the pediatric population. J Child Neurol. 2008 ; 23: 752-757
    • (2008) J Child Neurol , vol.23 , pp. 752-757
    • Bernard, G.1    Riou, E.2    Rosenblatt, B.3
  • 23
    • 34047241725 scopus 로고    scopus 로고
    • CMT1X phenotypes represent loss of GJB1 gene function
    • Shy ME, Siskind C, Swan RE, et al. CMT1X phenotypes represent loss of GJB1 gene function. Neurology. 2007 ; 68: 849-855
    • (2007) Neurology , vol.68 , pp. 849-855
    • Shy, M.E.1    Siskind, C.2    Swan, R.E.3
  • 24
    • 33646198169 scopus 로고    scopus 로고
    • Phenotypic and cellular expression of two novel connexin 32 mutations causing CMT1X
    • Kleopa KA, Zamba-Papanicolaou E, Alevra X, et al. Phenotypic and cellular expression of two novel connexin 32 mutations causing CMT1X. Neurology. 2006 ; 66: 396-402
    • (2006) Neurology , vol.66 , pp. 396-402
    • Kleopa, K.A.1    Zamba-Papanicolaou, E.2    Alevra, X.3
  • 25
    • 33747039269 scopus 로고    scopus 로고
    • GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy
    • Bugiani M, Al Shahwan MD, Lamantea E, et al. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Neurology. 2006 ; 67: 273-279
    • (2006) Neurology , vol.67 , pp. 273-279
    • Bugiani, M.1    Al Shahwan, M.D.2    Lamantea, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.