| First Author | Zielasek J | Year | 1996 |
| Journal | Muscle Nerve | Volume | 19 |
| Issue | 8 | Pages | 946-52 |
| PubMed ID | 8756159 | Mgi Jnum | J:35081 |
| Mgi Id | MGI:82535 | Doi | 10.1002/(SICI)1097-4598(199608)19:8<946::AID-MUS2>3.0.CO;2-8 |
| Citation | Zielasek J, et al. (1996) Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations. Muscle Nerve 19(8):946-52 |
| abstractText | Mutations in the gene encoding the transmembranous cell adhesion molecule, myelin protein zero (P-0), have been reported in patients with CharcotMarie-Tooth disease types 1B and 3 (Dejerine-Sottas disease). We have previously shown that the targeted deletion of the P-0 gene in mice results in impairment of sciatic nerve conduction, and we now extend our detailed electrophysiologic investigation to the facial nerve. In concordance with histologic investigations which revealed severe hypomyelination in peripheral nerves we found the typical electrophysiologic signs of severe dysmyelination in both the facial and sciatic nerves in mice homozygously deficient for the expression of P-0 (P-0(-/-) mice), As compared to control mice (P-0(+/+)), nerve conduction velocities were reduced to below 10% and compound muscle action potential (CMAP) amplitudes to below 25%, while CMAP duration and excitation thresholds were markedly increased. Surprisingly, nerve conduction changes in mice heterozygously deficient for P-0 (P-0(+/-)) were only mild, were detected only in the sciatic nerve, and occurred not before 5-7 months of age. They were more prominent at age 12-13 months. Thus, P-0(-/-) mice resemble severe human inherited neuropathies like Charcot- Marie-Tooth disease type 3 (Dejerine-Sottas disease) with onset early in life, whereas the P-0(+/-) mice may resemble the milder form, CMT1B. (C) 1996 John Wiley & Sons, Inc. |
