Four novel connexin 32 mutations in X-linked Charcot–Marie–Tooth disease. Phenotypic variability and central nervous system involvement

2014 ◽  
Vol 341 (1-2) ◽  
pp. 158-161 ◽  
Author(s):  
Georgia Karadima ◽  
Georgios Koutsis ◽  
Maria Raftopoulou ◽  
Paraskewi Floroskufi ◽  
Karolina-Maria Karletidi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Phenotypic Variability ◽  
Central Nervous System Involvement ◽  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
System Involvement ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Central nervous system involvement in axonal Charcot-Marie-Tooth disease

2009 ◽  
Vol 41 (1) ◽  
pp. 148-150
Author(s):  
Xinli Du ◽  
G. Frederick Wooten ◽  
Julie A. Matsumoto ◽  
Lawrence H. Phillips
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Involvement ◽  
Charcot Marie Tooth ◽  
System Involvement ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement

2007 ◽  
Vol 17 (2) ◽  
pp. 163-168 ◽  
Author(s):  
Andoni Echaniz-Laguna ◽  
Bertrand Degos ◽  
Céline Bonnet ◽  
Philippe Latour ◽  
Tarik Hamadouche ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Involvement ◽  
Charcot Marie Tooth ◽  
System Involvement ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Georgios Koutsis ◽  
Georgia Karadima ◽  
Paraskewi Floroskoufi ◽  
Maria Raftopoulou ◽  
Marios Panas
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Brain Mri ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Relapsing Remitting ◽  
Remitting Multiple Sclerosis ◽  
Relapsing Remitting Multiple Sclerosis ◽  
Tooth Disease

We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr) which was recently reported by our group. This is the third case report of a patient with CMTX developing MS, but it is unique in the fact that other family members carrying the same mutation were found to have asymptomatic central nervous system (CNS) involvement (diffuse white matter hyperintensity on brain MRI and extensor plantars). Although this may be a chance association, the increasing number of cases with CMTX and MS, especially with mutations involving the CNS, may imply some causative effect and provide insights into MS pathogenesis.

Four novel connexin 32 mutations in X–linked Charcot–Marie–Tooth disease with phenotypic variability

2005 ◽  
Vol 253 (2) ◽  
pp. 263-264 ◽  
Author(s):  
G. Karadima ◽  
M. Panas ◽  
P. Floroskufi ◽  
N. Kalfakis ◽  
D. Vassilopoulos
Keyword(s):  
Phenotypic Variability ◽  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Charcot Marie Tooth disease type 4J with complex central nervous system features

2018 ◽  
Vol 5 (2) ◽  
pp. 222-225 ◽  
Author(s):  
James P. Orengo ◽  
Pravin Khemani ◽  
John W. Day ◽  
Jun Li ◽  
Carly E. Siskind
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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