CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction
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X-linked Charcot-Marie-Tooth disease, type 1 (CMTX1) is one of the most common inherited neurological disorders. Obvious CNS involvement is relatively rare in CMTX1 patients. A 24-year-old male with CMTX1 presented with three transient stroke-like attacks, and was followed up regularly for 6 years with brain MRI and electrophysiological examination. Transient symmetrical high signals on T2 imaging and restricted diffusion were found in bilateral deep white matter. Electrophysiological measurement revealed a sensorimotor peripheral neuropathy with slightly reduced nerve conduction velocities. A novel thymine to cytosine mutation at nucleotide position 445 in the connexin 32 allele of the GJB1 gene was identified. During the 6-year longitudinal study, patient’s motor and sensory function did not worsen; radiological abnormalities correlated with episodes of CNS dysfunction and resolved after clinical recovery; electrophysiological records showed no obvious change. Little change in the patient’s clinical, radiological and electrophysiological results over the follow-up reflected a slow disease progression.
KeywordsX-linked Charcot-Marie-Tooth disease CNS involvement Symmetrical white matter abnormalities Nerve conduction velocity Cx32 gene mutation
Compound muscle action potential
X-linked Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease, type 1
Central nervous system
Fluid attenuated inversion recovery
Gap junction beta 1
Sensory nerve action potential
This work was supported by the National Natural Science Foundations of China (81230027, 81070959) and Key Scientific and Technological Project of Shanghai (11411950300). We thank the patients for their participation. We also thank Katherine Regan for editorial assistance.
Compliance with ethical standards
Conflict of interest
On behalf of all authors, we state that there is no conflict of interest.
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