Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot–Marie–Tooth Type 1: A case report and literature review

Hu, Guangda; Zhang, Lvming; Zhang, Mingjie; Yang, Chunxiao; Nie, Xiting; Xu, Feng; Chen, Li; Dong, Zhao; Yu, Shengyuan

doi:10.1016/j.clineuro.2019.03.018

Cited by 9 publications

(8 citation statements)

References 34 publications

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“…To date, over 30 cases of white matter lesion involvement in patients with Charcot-Marie-Tooth disease and 22 GJB1 gene mutations have been described [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]. Most these cases, as well as our cases, have similar clinical features: 1.…”

Section: Discussionsupporting

confidence: 66%

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report

et al. 2019

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Background: The X-linked form of Charcot-Marie-Tooth disease type 1 (CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1). Case presentation: Three young male patients from Southern China with pes cavus experienced multiple episodes of transient central nervous system (CNS) dysfunction. Three patients all had reversible posterior leukoencephalopathy as detected by brain diffusion-weighted magnetic resonance imaging (MRI-DWI). Nerve conduction velocity (NCV) showed sensorimotor polyneuropathy with mixed demyelinating and axonal features. Genetic testing indicated a c.425G > A (p.Arg142Glu) or c.563 C > T (p.Thr188Ile) or c.103G > C (p.Val35Leu) mutation in GJB1. The unique feature of this report is the identification of two novel mutations: c.563 C > T and sc.103G > C of the GJB1 gene detected in two families respectively. Another unique feature is that peripheral neuropathy symptoms in the three patients were insidious and found at the onset of CNS symptoms. Conclusions: Posterior leukoencephalopathy is involved in CMTX1 patients. The white matter changes in MRI of CMTX1 patients are reversible and recover later than CNS symptoms.

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Section: Discussionsupporting

confidence: 66%

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report

et al. 2019

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“…Additionally, ataxia, confusion, and coma have also been reported (4,5). Meanwhile, in most cases, MRI showed abnormal confluent T2/FLAIR/DWI hyperintensities frequently in the post white matter and corpus callosum (6). These clinical features sometimes mimicked stroke attacks as well as posterior reversible encephalopathy syndrome (PRES) just like this postpartum female patient we reported.…”

Section: Discussionsupporting

confidence: 64%

“…Moreover, female cases with CNS symptoms in CMTX1 are particularly rare. There were occasional instances of CMTX1 females showing subclinical involvement, such as extensor plantar response, abnormal auditory brainstem potential, and brain MRI (13), but none developed acute transient CNS dysfunction (6). This phenomenon could be explained as a result of X-inactivation.…”

Section: Discussionmentioning

confidence: 90%

Recurrent Stroke-Like Symptoms After Cesarean Section Deliveries in a Female Patient With X-Linked Charcot-Marie-Tooth Type 1

Chen

Ren

et al. 2020

Front. Neurol.

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Background: X-linked Charcot-Marie-Tooth type 1 (CMTX1) is the second most frequent form of CMT, which is caused by mutations in the gap junction beta 1 gene (GJB1) coding for connexin 32 protein. In addition to typical peripheral neuropathy, central nervous system (CNS) involvement in patients with CMTX1 has been reported as a special feature, but female patients are rarely affected. Case presentation:We describe a 29-year-old female who had a history of two cesarean deliveries. After each delivery, she presented transient and recurrent slurred speech and limb weakness. Magnetic resonance imaging (MRI) showed diffuse abnormal signals in the corpus callosum, posterior limbs of bilateral internal capsule, and centrum semiovale. Electromyogram showed sensorimotor peripheral neuropathy with the characteristics of intermediate CMT. The C.622G>A mutation (p.Glu208Lys) in the GJB1 gene was detected by PCR-sequencing. Conclusion:The diagnosis of CMTX1 should be considered, even in female patients, when the disease presents with recurrent stroke-like symptoms and abnormal white matter signals on MRI. The puerperium after delivery may be one of the precipitating factors.

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Section: Discussionmentioning

confidence: 68%

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease： cases report

Liang

Liu

Cheng

et al. 2019

Preprint

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Background The X-linked form of Charcot-Marie-Tooth disease type 1 (CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1). Case presentation Three young male patients from Southern China with pes cavus experienced multiple episodes of transient central nervous system (CNS) dysfunction. Three patients all had reversible posterior leukoencephalopathy as detected by brain diffusion-weighted magnetic resonance imaging (MRI-DWI). Nerve conduction velocity (NCV) showed sensorimotor polyneuropathy with mixed demyelinating and axonal features. Genetic testing indicated a c.425G>A (p.Arg142Glu) or c.563 C>T (p.Thr188Ile) or c.103G>C (p.Val35Leu) mutation in GJB1. The unique feature of this report is the identification of two novel mutations: c.563 C>T and sc.103G>C of the GJB1 gene detected in two families respectively. Another unique feature is that peripheral neuropathy symptoms in the three patients were insidious and found at the onset of CNS symptoms. Conclusions Posterior leukoencephalopathy is involved in CMTX1 patients. The white matter changes in MRI of CMTX1 patients are reversible and recover later than CNS symptoms.

show abstract

Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot–Marie–Tooth Type 1: A case report and literature review

Cited by 9 publications

References 34 publications

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report

Recurrent Stroke-Like Symptoms After Cesarean Section Deliveries in a Female Patient With X-Linked Charcot-Marie-Tooth Type 1

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease： cases report

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