Connexin32 in the Peripheral Nervous System: Functional Analysis of Mutations Associated with X-linked Charcot-Marie-Tooth Syndrome and Implications for the Pathophysiology of the Disease

1999 ◽  
Vol 883 (1) ◽  
pp. 168-185 ◽  
Author(s):  
S. M. NICHOLSON ◽  
C. RESSOT ◽  
D. GOMÈS ◽  
P. D'ANDREA ◽  
J. PEREA ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Nervous System ◽  
Peripheral Nervous System ◽  
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

scholarly journals The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Obaid M. Albulym ◽  
Danqing Zhu ◽  
Stephen Reddel ◽  
Marina Kennerson ◽  
Garth Nicholson
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Allele Frequency ◽  
Sensory Neurons ◽  
Segregation Analysis ◽  
Index Patient ◽  
Heterogeneous Group ◽  
Disease Phenotype ◽  
Charcot Marie Tooth ◽  
Multigenerational Family

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of disorders affecting both motor and sensory neurons in the peripheral nervous system. Mutations in the MFN2 gene cause an axonal form of CMT, CMT2A. The V705I variant in MFN2 has been previously reported as a disease-causing mutation in families with CMT2. We identified an affected index patient from an Australian multigenerational family with the V705I variant. Segregation analysis showed that the V705I variant did not segregate with the disease phenotype and was present in control individuals with an allele frequency of 4.4%. We, therefore, propose that the V705I variant is a polymorphism and not a disease-causing mutation as previously reported.

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.

scholarly journals Identification of Candidate Genes Associated with Charcot-Marie-Tooth Disease by Network and Pathway Analysis

2020 ◽  
Vol 2020 ◽  
pp. 1-13
Author(s):  
Min Zhong ◽  
Qing Luo ◽  
Ting Ye ◽  
XiDan Zhu ◽  
Xiu Chen ◽  
...  
Keyword(s):  
Nervous System ◽  
Candidate Genes ◽  
Peripheral Nervous System ◽  
Molecular Mechanisms ◽  
Clinical Genetic ◽  
Systematic Analysis ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Functional Features ◽  
Tooth Disease

Charcot-Marie-Tooth Disease (CMT) is the most common clinical genetic disease of the peripheral nervous system. Although many studies have focused on elucidating the pathogenesis of CMT, few focuses on achieving a systematic analysis of biology to decode the underlying pathological molecular mechanisms and the mechanism of its disease remains to be elucidated. So our study may provide further useful insights into the molecular mechanisms of CMT based on a systematic bioinformatics analysis. In the current study, by reviewing the literatures deposited in PUBMED, we identified 100 genes genetically related to CMT. Then, the functional features of the CMT-related genes were examined by R software and KOBAS, and the selected biological process crosstalk was visualized with the software Cytoscape. Moreover, CMT specific molecular network analysis was conducted by the Molecular Complex Detection (MCODE) Algorithm. The biological function enrichment analysis suggested that myelin sheath, axon, peripheral nervous system, mitochondrial function, various metabolic processes, and autophagy played important roles in CMT development. Aminoacyl-tRNA biosynthesis, metabolic pathways, and vasopressin-regulated water reabsorption were significantly enriched in the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway network, suggesting that these pathways may play key roles in CMT occurrence and development. According to the crosstalk, the biological processes could be roughly divided into a correlative module and two separate modules. MCODE clusters showed that in top 3 clusters, 13 of CMT-related genes were included in the network and 30 candidate genes were discovered which might be potentially related to CMT. The study may help to update the new understanding of the pathogenesis of CMT and expand the potential genes of CMT for further exploration.

Glucuronyl 3-sulfate occurs exclusively on distal unmyelinated terminals of selected sensory neurons in the peripheral nervous system

1995 ◽  
Vol 53 ◽  
pp. 958-959
Author(s):  
S.S. Spicer ◽  
B.A. Schulte
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Cerebral Cortex ◽  
Peripheral Nervous System ◽  
Sensory Neurons ◽  
Sensory Nerves ◽  
Tissue Antigens ◽  
The Central Nervous System ◽  
The Brain ◽  
Leu 7

Generation of monoclonal antibodies (MAbs) against tissue antigens has yielded several (VC1.1, HNK- 1, L2, 4F4 and anti-leu 7) which recognize the unique sugar epitope, glucuronyl 3-sulfate (Glc A3- SO4). In the central nervous system, these MAbs have demonstrated Glc A3-SO4 at the surface of neurons in the cerebral cortex, the cerebellum, the retina and other widespread regions of the brain.Here we describe the distribution of Glc A3-SO4 in the peripheral nervous system as determined by immunostaining with a MAb (VC 1.1) developed against antigen in the cat visual cortex. Outside the central nervous system, immunoreactivity was observed only in peripheral terminals of selected sensory nerves conducting transduction signals for touch, hearing, balance and taste. On the glassy membrane of the sinus hair in murine nasal skin, just deep to the ringwurt, VC 1.1 delineated an intensely stained, plaque-like area (Fig. 1). This previously unrecognized structure of the nasal vibrissae presumably serves as a tactile end organ and to our knowledge is not demonstrable by means other than its selective immunopositivity with VC1.1 and its appearance as a densely fibrillar area in H&E stained sections.

Questions and Answers

2000 ◽  
Vol 5 (2) ◽  
pp. 3-3
Author(s):  
Christopher R. Brigham ◽  
James B. Talmage
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Spinal Nerve ◽  
Sensory Loss ◽  
Residual Symptoms ◽  
Additional Information ◽  
Questions And Answers ◽  
Motor Nerves ◽  
Symptoms And Signs ◽  
Limited Motion

Abstract Lesions of the peripheral nervous system (PNS), whether due to injury or illness, commonly result in residual symptoms and signs and, hence, permanent impairment. The AMA Guides to the Evaluation of Permanent Impairment (AMA Guides) describes procedures for rating upper extremity neural deficits in Chapter 3, The Musculoskeletal System, section 3.1k; Chapter 4, The Nervous System, section 4.4 provides additional information and an example. The AMA Guides also divides PNS deficits into sensory and motor and includes pain within the former. The impairment estimates take into account typical manifestations such as limited motion, atrophy, and reflex, trophic, and vasomotor deficits. Lesions of the peripheral nervous system may result in diminished sensation (anesthesia or hypesthesia), abnormal sensation (dysesthesia or paresthesia), or increased sensation (hyperesthesia). Lesions of motor nerves can result in weakness or paralysis of the muscles innervated. Spinal nerve deficits are identified by sensory loss or pain in the dermatome or weakness in the myotome supplied. The steps in estimating brachial plexus impairment are similar to those for spinal and peripheral nerves. Evaluators should take care not to rate the same impairment twice, eg, rating weakness resulting from a peripheral nerve injury and the joss of joint motion due to that weakness.

Chronic neonatal mild stress induces long lasting alterations on peripheral nervous system programming in mice

2004 ◽  
Author(s):  
G. Galietta ◽  
A. Capasso ◽  
A. Fortuna ◽  
F. Fabi ◽  
P. Del Basso ◽  
...  
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Mild Stress ◽  
System Programming
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