scholarly journals Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease

2021 ◽  
Vol 9 ◽  
Author(s):  
Cara R. Schiavon ◽  
Gerald S. Shadel ◽  
Uri Manor
Keyword(s):  
Clinical Manifestations ◽  
Underlying Disease ◽  
Mobility Model ◽  
The Body ◽  
Charcot Marie Tooth ◽  
Peripheral Neurons ◽  
Charcot Marie Tooth Disease ◽  
Organelle Trafficking ◽  
Axonal Cmt ◽  
Trafficking Defects

Charcot-Marie-Tooth (CMT) disease is a progressive, peripheral neuropathy and the most commonly inherited neurological disorder. Clinical manifestations of CMT mutations are typically limited to peripheral neurons, the longest cells in the body. Currently, mutations in at least 80 different genes are associated with CMT and new mutations are regularly being discovered. A large portion of the proteins mutated in axonal CMT have documented roles in mitochondrial mobility, suggesting that organelle trafficking defects may be a common underlying disease mechanism. This review will focus on the potential role of altered mitochondrial mobility in the pathogenesis of axonal CMT, highlighting the conceptional challenges and potential experimental and therapeutic opportunities presented by this “impaired mobility” model of the disease.

scholarly journals Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease

2020 ◽  
Author(s):  
Cara Schiavon ◽  
Uri Manor
Keyword(s):  
Clinical Manifestations ◽  
Underlying Mechanism ◽  
The Body ◽  
Charcot Marie Tooth ◽  
Peripheral Neurons ◽  
Charcot Marie Tooth Disease ◽  
Challenges And Opportunities ◽  
Axonal Cmt ◽  
Trafficking Defects

Charcot-Marie-Tooth (CMT) disease is the most commonly inherited neurological disorder, defined by progressive deterioration of the peripheral nerves. Clinical manifestations of CMT mutations are typically limited to peripheral neurons, the longest cells in the body. Currently, mutations in at least 80 different genes are associated with CMT and new mutations are regularly being discovered. A large portion of the proteins mutated in axonal CMT have documented roles in mitochondrial mobility. This suggests that trafficking defects may be a common underlying mechanism in CMT. This review will focus on the potential role of altered mitochondrial mobility in the pathogenesis of axonal CMT, highlighting the challenges and opportunities to this “impaired mobility” model of the 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.

scholarly journals Transient, Recurrent Central Nervous System Clinical Manifestations of X-Linked Charcot-Marie-Tooth Disease Presenting with Very Long Latency Periods between Episodes: Is Prolonged Sun Exposure a Provoking Factor?

2020 ◽  
Vol 2020 ◽  
pp. 1-5 ◽  
Author(s):  
Andria Tziakouri ◽  
Konstantinos Natsiopoulos ◽  
Kleopas A. Kleopa ◽  
Costas Michaelides
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Prolonged Exposure ◽  
Clinical Manifestations ◽  
Sun Exposure ◽  
Foot Deformities ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Long Latency ◽  
Tooth Disease

Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders affecting the peripheral nervous system. The common clinical manifestations of the disease are distal muscle weakness and atrophy, often associated with a characteristic steppage gait and foot deformities. Transient acute and recurrent or chronic central nervous system manifestations, predominantly, dysarthria, dysphagia, motor weakness, and ataxia, have been recognized as a feature of the X-linked type 1 of CMT (CMTX1). The CNS symptoms occur typically in young age and often precede the clinical manifestation of the polyneuropathy. Several predisposing factors such as exercise, fever, and returning from areas of high altitude have been described as triggers of the CNS symptoms; however, in many cases, a substantial cause remains undetermined. In this report, we describe a patient with three attacks of transient CNS deficits at the ages of 11, 21, and 38 years, respectively, which were also accompanied by transient white matter abnormalities on MRI. Two of the attacks occurred after prolonged exposure to sunlight. In our knowledge, this is the first documented case with such long latency periods between CNS attacks as well as the only report describing intense sun exposure as a possible provoking factor.

Modern Approaches to Etiopathogenetic Therapy of Broncho-Obstructive Disease in Pediatric Practice

10.12737/9072 ◽  
2015 ◽  
Vol 22 (1) ◽  
pp. 27-33 ◽  
Author(s):  
Садовникова ◽  
I. Sadovnikova ◽  
Зудов ◽  
Andrey Zudov
Keyword(s):  
Respiratory Infections ◽  
Clinical Manifestations ◽  
Underlying Disease ◽  
The Body ◽  
Bronchial Obstruction ◽  
Protective Mechanisms ◽  
Inflammatory Infiltration ◽  
Pediatric Pulmonology ◽  
Bronchial System ◽  
Almost All

The research of effective methods of treatment of broncho-obstructive diseases is one of the most important questions of the pediatric pulmonology. General clinical manifestations are characterized by attacks of breathlessness, prolonged exhalation, unproductive cough, whistling and noisy breathing sometimes with a help of auxiliary muscles. Often this disease leads to bronchial asthma, obstructive bronchitis, and malformations of the lung and bronchus. In the pathogenesis of bronchial obstruction whilst respiratory infections the main factors are inflammatory infiltration of the bronchial mucosa, its swelling, hypersecretion of viscous mucus and bronchospasm due to hyperactivity of the bronchi of the inflammatory nature. To diagnose this disease it is important to establish the presence or absence of the effectiveness of the protective mechanisms of the body at different hierarchic levels. To protect the respiratory tract from exposure to adverse environmental factors in the process of ontogenesis pro-tective mechanisms formed. The first stage of purification of the bronchial system is mucociliary clearance carried out by the cells of the ciliated epithelial cells and glands that produce bronchial secret. If the cause of the disease is established, the etiotropic and pathogenetic treatment of the underlying disease should be carried out. Of special interest in pediatric pulmonology is the experience of the combined drug Kashnol. It simultaneously affects almost all parts of the pathogenesis of acute and chronic broncho-pulmonary diseases.

scholarly journals Held Up in Traffic—Defects in the Trafficking Machinery in Charcot-Marie-Tooth Disease

2021 ◽  
Vol 14 ◽  
Author(s):  
Ronja Markworth ◽  
Mathias Bähr ◽  
Katja Burk
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Intracellular Transport ◽  
Early Adulthood ◽  
Sensory Neuropathy ◽  
Common Denominator ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Trafficking Defects ◽  
Tooth Disease

Charcot-Marie-Tooth disease (CMT), also known as motor and sensory neuropathy, describes a clinically and genetically heterogenous group of disorders affecting the peripheral nervous system. CMT typically arises in early adulthood and is manifested by progressive loss of motor and sensory functions; however, the mechanisms leading to the pathogenesis are not fully understood. In this review, we discuss disrupted intracellular transport as a common denominator in the pathogenesis of different CMT subtypes. Intracellular transport via the endosomal system is essential for the delivery of lipids, proteins, and organelles bidirectionally to synapses and the soma. As neurons of the peripheral nervous system are amongst the longest neurons in the human body, they are particularly susceptible to damage of the intracellular transport system, leading to a loss in axonal integrity and neuronal death. Interestingly, defects in intracellular transport, both in neurons and Schwann cells, have been found to provoke disease. This review explains the mechanisms of trafficking and subsequently summarizes and discusses the latest findings on how defects in trafficking lead to CMT. A deeper understanding of intracellular trafficking defects in CMT will expand our understanding of CMT pathogenesis and will provide novel approaches for therapeutic treatments.

PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1

2015 ◽  
Vol 52 (1) ◽  
pp. 69-75 ◽  
Author(s):  
Yajing Zhan ◽  
Xiaohong Zi ◽  
Zhengmao Hu ◽  
Ying Peng ◽  
Lingqian Wu ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Disease Type ◽  
Chinese Han ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A Review The use of Cerebrolysin in Pediatric Charcot Marie Tooth Disease

2020 ◽  
Vol 3 (2) ◽  
pp. 13-17
Author(s):  
Aamir Jalal Al Mosawi
Keyword(s):  
Sensory Neuropathy ◽  
First Grade ◽  
The Body ◽  
Novel Therapy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Abnormal Gait ◽  
Noticeable Improvement ◽  
Medical City ◽  
Tooth Disease

Charcot Marie Tooth disease is a is a very chronic progressive hereditarymotor and sensory neuropathy characterized by progressive weakness andloss of touch sensation across various parts of the body. There are no curative or effective medical therapies that can ameliorate the disability associated with Charcot Marie Tooth disease. The aim of this paper is to describe the safe novel use of cerebrolysin in an Iraqi patient with Charcot Marie Tooth disease. Patients and Methods A boy who was born on the seventh of November, 2009, and was first seen on 29th of January, 2018 at the Children Teaching Hospital of Baghdad Medical City and had Charcot Marie Tooth disease was observed. He had difficulty in walking and abnormal gait that made him left first grade primary school. The nerve conduction study and electromyography study supported the clinical diagnosis of chronic symmetric sensori-motor polyneuropathy of moderated severity. The boy was treated with a safe novel therapy for one month. He receivedten doses of 3 ml intra-muscular cerebrolysin every three days. Results The short term effect of the therapy was dramatic with noticeable improvement that has never been reported before with this condition. Conclusion Further studies enrolling more patients are highly recommended.

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