Charcot-Marie-Tooth Disease Type 1A and Inflammatory-Demyelinating Lesions in the Central Nervous System

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.

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

Acta Neurologica Scandinavica ◽

10.1034/j.1600-0404.2003.01317.x ◽

2003 ◽

Vol 107 (1) ◽

pp. 31-37 ◽

Cited By ~ 31

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

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

Muscle & Nerve ◽

10.1002/mus.21524 ◽

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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The stretcher spontaneous neurodegenerative mutation models Charcot-Marie-Tooth disease type 4D

F1000Research ◽

10.12688/f1000research.2-46.v1 ◽

2013 ◽

Vol 2 ◽

pp. 46

Author(s):

David Chandler ◽

Sash Lopaticki ◽

Dexing Huang ◽

Michael Hunter ◽

Dora Angelicheva ◽

...

Keyword(s):

Mutant Mouse ◽

Spontaneous Mutation ◽

Small Region ◽

Disease Type ◽

Chromosome 15 ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

The Central Nervous System ◽

Human Orthologue ◽

Tooth Disease

Mice affected by a spontaneous mutation which arose within our colony exhibited a neuromuscular phenotype involving tremor and characteristic stretching of the rear limbs. The mutant, named stretcher, was used to breed a backcross cohort for genetic mapping studies. The gene responsible for the mutant phenotype was mapped to a small region on mouse chromosome 15, with a LOD score above 20. Candidate genes within the region included the Ndrg1 gene. Examination of this gene in the mutant mouse strain revealed that exons 10 to 14 had been deleted. Mutations in the human orthologue are known to result in Charcot-Marie-Tooth disease type 4D (CMT4D) a severe early-onset disorder involving Schwann cell dysfunction and extensive demyelination. The stretcher mutant mouse is more severely affected than mice in which the Ndrg1 gene had been knocked out by homologous recombination. Our results demonstrate that the Ndrg1str mutation provides a new model for CMT4D, and demonstrate that exons 10 to 14 of Ndrg1 encode amino acids crucial to the appropriate function of Ndrg1 in the central nervous system.

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

Annals of Clinical Neurophysiology ◽

10.14253/acn.2021.23.2.130 ◽

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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