A rare association between multiple sclerosis and Charcot-Marie-Tooth type 1B
Related Experiment Video
Updated: Mar 9, 2026

07:43
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
7.4K
Rosa Cortese1, Stefano Zoccolella1, Maria Muglia2
1Department of Basic Medical Sciences, Neurosciences and Sense Organs University of Bari Bari Italy.
Brain and Behavior
|December 30, 2016
Abstract:
The association between multiple sclerosis (MS) and hereditary and sporadic demyelinating disorders of the peripheral nervous system is extremely rare. We herein report a case of Charcot-Marie-Tooth disease type 1B with p.Val102fs mutation in the MPZ gene that developed relapsing remitting MS.
More Related Videos
Related Concept Videos
Pleiotropy
43.7K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.7K
Atherosclerosis I: Introduction
1.7K
Atherosclerosis is a progressive disorder characterized by the buildup of plaques on the arterial inner wall, causing them to narrow and harden over time. These plaques comprise lipids, calcium, blood components, carbohydrates, and fibrous tissue. The process primarily affects the intima of large and medium-sized arteries, reducing blood flow in any artery.Etiology and risk factorsThe cause of atherosclerosis is multifactorial, involving a complex interplay among endothelial injury, lipid...
1.7K
Chemical Synapses
12.2K
Chemical synapses are specialized sites between two neurons or between a neuron and a non-neuronal cell like a muscle, glandular or sensory cell.
Because chemical synapses depend on the release of neurotransmitter molecules from synaptic vesicles to pass on their signal, there is an approximately one millisecond delay between when the axon potential reaches the presynaptic terminal and when the neurotransmitter leads to opening of postsynaptic ion channels. Additionally, this signaling is...
Because chemical synapses depend on the release of neurotransmitter molecules from synaptic vesicles to pass on their signal, there is an approximately one millisecond delay between when the axon potential reaches the presynaptic terminal and when the neurotransmitter leads to opening of postsynaptic ion channels. Additionally, this signaling is...
12.2K

