Peripheral neuropathy is linked to a severe form of myotonic dystrophy in transgenic mice.

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Version: Final published version
Serval ID
serval:BIB_A0224DC83CE5
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Peripheral neuropathy is linked to a severe form of myotonic dystrophy in transgenic mice.
Journal
Journal of Neuropathology and Experimental Neurology
Author(s)
Panaite P.A., Kielar M., Kraftsik R., Gourdon G., Kuntzer T., Barakat-Walter I.
ISSN
0022-3069 (Print)
ISSN-L
0022-3069
Publication state
Published
Issued date
2011
Peer-reviewed
Oui
Volume
70
Number
8
Pages
678-685
Language
english
Abstract
Myotonic dystrophy type 1 (DM1) is a multisystem disorder with a variable phenotype. The involvement of peripheral nerves in DM1 disease is controversial. The DM1 animal model DM300 transgenic mice that carry 350 to 500 CTG repeats express a mild DM1 phenotype but do not exhibit motor or sensory pathology. Here, we investigated the presence or absence of peripheral neuropathy in transgenic mice (DMSXL) that carry more than 1,300 CTG repeats and display a severe form of DM1. Electrophysiologic, histologic, and morphometric methods were used to investigate the structure and function of peripheral nerves. We observed lower compound muscle action potentials recorded from hind limb muscles and slowing of sciatic nerve conduction velocity in DMSXL versus control mice. Morphometric analyses showed an axonopathy and neuronopathy in the DMSXL mice characterized by a decrease in numbers of myelinatedmotor axons in sciatic nerve and in spinal cord motor neurons. Pathologic alterations in the structure of hind limb neuromuscular junctions were also detected in the DMSXL mice. These results suggest that peripheral neuropathy can be linked to a large CTG expansion and a severe form of DM1.
Keywords
Compound muscle action potential, DMSXL transgenic mice, Motor neuropathy, Myotonic dystrophy, Neuromuscular junctions, Physical disector method
Pubmed
Web of science
Open Access
Yes
Create date
26/08/2011 7:42
Last modification date
20/08/2019 15:06
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