Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B

2019 ◽  
Vol 56 (9) ◽  
pp. 6095-6105 ◽  
Author(s):  
Fang-Shin Nian ◽  
Lei-Li Li ◽  
Chih-Ya Cheng ◽  
Pei-Chun Wu ◽  
You-Tai Lin ◽  
...  
Keyword(s):  
Nervous System ◽  
Charcot Marie Tooth ◽  
Warburg Micro Syndrome

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.

5. Electrophysiological features of peripheral and central nervous system in hereditary neuropathy Charcot Marie Tooth linked to X chromosome

2014 ◽  
Vol 125 (5) ◽  
pp. e26
Author(s):  
R. Mazanec ◽  
J. Haberlová ◽  
D. Šafka-Brožková ◽  
P. Laššuthová ◽  
P. Seeman ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
X Chromosome ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth

Coexistent Central and Peripheral Nervous System Involvement in a Charcot-Marie-Tooth Syndrome X-linked Patient

2010 ◽  
Vol 25 (6) ◽  
pp. 759-763 ◽  
Author(s):  
Carlo Fusco ◽  
Daniele Frattini ◽  
Francesco Pisani ◽  
Federica Spaggiari ◽  
Alessandra Ferlini ◽  
...  
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Syndrome X ◽  
Charcot Marie Tooth ◽  
System Involvement

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

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

scholarly journals A case of X-linked Charcot-Marie-tooth disease type 1 manifesting as recurrent alternating hemiplegia with transient cerebral white matter lesions

2021 ◽  
Vol 23 (2) ◽  
pp. 130-133
Author(s):  
Minsung Kang ◽  
Sun-Jae Hwang ◽  
Jin-Hong Shin ◽  
Dae-Seong Kim
Keyword(s):  
Nervous System ◽  
Clinical Manifestations ◽  
White Matter Lesions ◽  
Disease Type ◽  
Cerebral White Matter ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

X-linked Charcot Marie Tooth disease type 1 (CMTX1) is a clinically heterogenous X-linked hereditary neuropathy caused by mutation of the gene encoding gap junction beta 1 protein (GJB1). Typical clinical manifestations of CMTX1 are progressive weakness or sensory disturbance due to peripheral neuropathy. However, there have been some CMTX1 cases with accompanying central nervous system (CNS) manifestations. We report the case of a genetically confirmed CMTX1 patient who presented recurrent transient CNS symptoms without any symptom or sign of peripheral nervous system involvement.

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