Transient, Recurrent, White Matter Lesions in X-linked Charcot-Marie-Tooth Disease With Novel Connexin 32 Mutation

Abstract

Patients with CMTX can present with transient CNS symptoms and marked white matter lesions on magnetic resonance imaging scans.

X-linked Charcot-Marie-Tooth Disease (CMTX) in a Severely Affected Female Patient with Scattered Lesions in Cerebral White Matter

“…Here, we reported for the first time a female patient with atypical scattered lesions in cerebral white matter who exhibited all the clinical criteria of CMTX and had a mutation in the GJB1 gene. Previously, CMTX patients were reported with white matter lesions in the periventricular area, the parietal white matter, and in the splenium of corpus callosum (6)(7)(8). Among them, only one male case showed scattered white matter lesions that were similar to those in our case (6) (12).…”

X-linked Charcot-Marie-Tooth Disease (CMTX) in a Severely Affected Female Patient with Scattered Lesions in Cerebral White Matter

“…Here, we reported for the first time a female patient with atypical scattered lesions in cerebral white matter who exhibited all the clinical criteria of CMTX and had a mutation in the GJB1 gene. Previously, CMTX patients were reported with white matter lesions in the periventricular area, the parietal white matter, and in the splenium of corpus callosum (6)(7)(8). Among them, only one male case showed scattered white matter lesions that were similar to those in our case (6) (12).…”

Recurrent central nervous system white matter changes in charcot–Marie–Tooth type X disease

“…Transient white matter changes with clinical findings similar to those seen in our patient have been reported rarely in CMT1X, both with and without overt symptoms . CNS manifestations in those cases tended to be recurrent, transient, and associated with triggering events, including fever, viral illness, and travel to high altitude .…”

Diffusion tensor imaging and magnetic resonance spectroscopy of transient cerebral white matter lesions in X-linked Charcot-Marie-Tooth disease

“…Transgenic mice with mutation in the GJB1 gene show a loss of connexin32 junction in Schwann cells and oligodendrocytes [2]. Similar CMTX patients showing repetitive, recurrent and transient hemiparesis have been reported [3][4][5][6][7][8]. The mutation in the present case (W132X) has been previously reported [9], but the central nervous system manifestation has never described in conjunction with this mutation.…”

X-linked Charcot-Marie-Tooth Disease (CMTX) in a Severely Affected Female Patient with Scattered Lesions in Cerebral White Matter

“…Here, we reported for the first time a female patient with atypical scattered lesions in cerebral white matter who exhibited all the clinical criteria of CMTX and had a mutation in the GJB1 gene. Previously, CMTX patients were reported with white matter lesions in the periventricular area, the parietal white matter, and in the splenium of corpus callosum (6)(7)(8). Among them, only one male case showed scattered white matter lesions that were similar to those in our case (6) (12).…”

Recurrent central nervous system white matter changes in charcot–Marie–Tooth type X disease

“…Transient white matter changes with clinical findings similar to those seen in our patient have been reported rarely in CMT1X, both with and without overt symptoms . CNS manifestations in those cases tended to be recurrent, transient, and associated with triggering events, including fever, viral illness, and travel to high altitude .…”

Diffusion tensor imaging and magnetic resonance spectroscopy of transient cerebral white matter lesions in X-linked Charcot-Marie-Tooth disease

“…Transgenic mice with mutation in the GJB1 gene show a loss of connexin32 junction in Schwann cells and oligodendrocytes [2]. Similar CMTX patients showing repetitive, recurrent and transient hemiparesis have been reported [3][4][5][6][7][8]. The mutation in the present case (W132X) has been previously reported [9], but the central nervous system manifestation has never described in conjunction with this mutation.…”

X-linked Charcot-Marie-Tooth Disease (CMTX) in a Severely Affected Female Patient with Scattered Lesions in Cerebral White Matter

“…Here, we reported for the first time a female patient with atypical scattered lesions in cerebral white matter who exhibited all the clinical criteria of CMTX and had a mutation in the GJB1 gene. Previously, CMTX patients were reported with white matter lesions in the periventricular area, the parietal white matter, and in the splenium of corpus callosum (6)(7)(8). Among them, only one male case showed scattered white matter lesions that were similar to those in our case (6) (12).…”

Recurrent central nervous system white matter changes in charcot–Marie–Tooth type X disease

“…Transient white matter changes with clinical findings similar to those seen in our patient have been reported rarely in CMT1X, both with and without overt symptoms . CNS manifestations in those cases tended to be recurrent, transient, and associated with triggering events, including fever, viral illness, and travel to high altitude .…”

Diffusion tensor imaging and magnetic resonance spectroscopy of transient cerebral white matter lesions in X-linked Charcot-Marie-Tooth disease

“…Transgenic mice with mutation in the GJB1 gene show a loss of connexin32 junction in Schwann cells and oligodendrocytes [2]. Similar CMTX patients showing repetitive, recurrent and transient hemiparesis have been reported [3][4][5][6][7][8]. The mutation in the present case (W132X) has been previously reported [9], but the central nervous system manifestation has never described in conjunction with this mutation.…”