Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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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)
  • Received : 2021.07.14
  • Accepted : 2021.08.09
  • Published : 2021.10.31
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Abstract

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.

Keywords

Acknowledgement

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

References

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