Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease

2003 ◽  
Vol 107 (1) ◽  
pp. 31-37 ◽  
Author(s):  
H. Takashima ◽  
M. Nakagawa ◽  
F. Umehara ◽  
K. Hirata ◽  
M. Suehara ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Gap Junction ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Junction Protein ◽  
Gap Junction Protein ◽  
Tooth Disease

A novel mutation of gap junction protein beta 1 gene in x-linked charcot-marie-tooth disease

2011 ◽  
Vol 43 (6) ◽  
pp. 887-892 ◽  
Author(s):  
Sheng Dong Chen ◽  
Zheng Xi Li ◽  
Yang Tai Guan ◽  
Xia Jun Zhou ◽  
Jian Ming Jiang ◽  
...  
Keyword(s):  
Gap Junction ◽  
Novel Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Junction Protein ◽  
Gap Junction Protein ◽  
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.

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
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