Annals of Clinical Neurophysiology

  • 제23권2호
  • /
  • Pages.130-133
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  • 2021
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  • 2508-691X(pISSN)
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  • 2508-6960(eISSN)
대한임상신경생리학회 (The Korean Society of Clinical Neurophysiology)
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A case of X-linked Charcot-Marie-tooth disease type 1 manifesting as recurrent alternating hemiplegia with transient cerebral white matter lesions

  • Kang, Minsung (Department of Neurology, Pusan National University Yangsan Hospital) ;
  • Hwang, Sun-Jae (Department of Neurology, Bethesda Hospital) ;
  • Shin, Jin-Hong (Department of Neurology, Pusan National University Yangsan Hospital) ;
  • Kim, Dae-Seong (Department of Neurology, Pusan National University Yangsan Hospital)
  • 투고 : 2021.07.14
  • 심사 : 2021.08.09
  • 발행 : 2021.10.31
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초록

X-linked Charcot Marie Tooth disease type 1 (CMTX1) is a clinically heterogenous X-linked hereditary neuropathy caused by mutation of the gene encoding gap junction beta 1 protein (GJB1). Typical clinical manifestations of CMTX1 are progressive weakness or sensory disturbance due to peripheral neuropathy. However, there have been some CMTX1 cases with accompanying central nervous system (CNS) manifestations. We report the case of a genetically confirmed CMTX1 patient who presented recurrent transient CNS symptoms without any symptom or sign of peripheral nervous system involvement.

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과제정보

This study was supported by a 2020 research grant from Pusan National University Yangsan Hospital.

참고문헌

  1. Wang Y, Yin F. A review of X-linked Charcot-Marie-Tooth disease. J Child Neurol 2016;31:761-772. https://doi.org/10.1177/0883073815604227
  2. Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML. A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset. Neuromuscul Disord 2006;16:878-881. https://doi.org/10.1016/j.nmd.2006.09.002
  3. Sargiannidou I, Vavlitou N, Aristodemou S, Hadjisavvas A, Kyriacou K, Scherer SS, et al. Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects. J Neurosci 2009;29:4736-4749. https://doi.org/10.1523/JNEUROSCI.0325-09.2009
  4. Al-Mateen M, Craig AK, Chance PF. The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults. J Child Neurol 2014;29:342-348. https://doi.org/10.1177/0883073812474343
  5. Lee MJ, Nelson I, Houlden H, Sweeney MG, Hilton-Jones D, Blake J, et al. Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry 2002;73:304-306. https://doi.org/10.1136/jnnp.73.3.304
  6. Kim JK, Han SA, Kim SJ. X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: a case report. Medicine (Baltimore) 2017;96:e9176. https://doi.org/10.1097/MD.0000000000009176