CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.
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.
Department of Neurology, Changhai Hospital, Second Military Medical University, Shanghai, 200433, China.
Chong
C
Xie
Department of Neurology, Renji Hospital, Shanghai Jiaotong University, 160 Pujian Road, Shanghai, China.
Xiajun
X
Zhou
Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Desheng
D
Zhu
Department of Neurology, Changhai Hospital, Second Military Medical University, Shanghai, 200433, China.
Wei
W
Liu
Department of Neurology, Changhai Hospital, Second Military Medical University, Shanghai, 200433, China.
Xiaoqing
X
Wang
Department of Neurology, Shanghai Yangpu Geriatric Hospital, Shanghai, China.
Hong
H
Yang
Department of Neurology, Renji Hospital, Shanghai Jiaotong University, 160 Pujian Road, Shanghai, China.
Zezhi
Z
Li
Department of Neurology, Renji Hospital, Shanghai Jiaotong University, 160 Pujian Road, Shanghai, China.
Yong
Y
Hao
Department of Neurology, Thomas Jefferson University, 900 Walnut Street, Suite 300, Philadelphia, PA, 19107, USA. Guang-Xian.Zhang@jefferson.edu.
Guang-Xian
GX
Zhang
Department of Neurology, Changhai Hospital, Second Military Medical University, Shanghai, 200433, China.|Department of Neurology, Renji Hospital, Shanghai Jiaotong University, 160 Pujian Road, Shanghai, China.
Yangtai
Y
Guan
D002490:Central Nervous System / Q000000981:diagnostic imaging* / Q000473:pathology; D017630:Connexins / Q000235:genetics*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology*; D055815:Young Adult; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D000097002:Gap Junction beta-1 Protein
CNS involvement; Cx32 gene mutation; Nerve conduction velocity; Symmetrical white matter abnormalities; X-linked Charcot-Marie-Tooth disease