Axon damage in CMT due to mutation in myelin protein P0

C O Hanemann; A A Gabreëls-Festen; P De Jonghe

doi:10.1016/s0960-8966(01)00229-2

Axon damage in CMT due to mutation in myelin protein P0

Neuromuscul Disord. 2001 Nov;11(8):753-6. doi: 10.1016/s0960-8966(01)00229-2.

Authors

C O Hanemann¹, A A Gabreëls-Festen, P De Jonghe

Affiliation

¹ Department of Neurology, Zentrum für klinische Forschung, University of Ulm, Helmholtzstrasse 8/1, Ulm, Germany. Oliver.Hanemann@medizin.uni-ulm.de

PMID: 11595518
DOI: 10.1016/s0960-8966(01)00229-2

Abstract

We describe a family carrying the Thr148Met mutation in the P0 gene. Contrary to other neuropathies caused by myelin gene defects, no demyeliantion could be found in our biopsies. Based on follow up examinations, extensive morphometry and immunohistochemical analysis we suggest that the mild hypomyelination documented in our family secondarily causes axonal degeneration and axonal loss of large and small fibers which predominates the clinical picture.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Amino Acid Substitution
Axons / pathology*
Axons / physiology*
Biopsy
Cell Count
Charcot-Marie-Tooth Disease / diagnosis*
Charcot-Marie-Tooth Disease / pathology
Charcot-Marie-Tooth Disease / physiopathology*
Female
Humans
Immunohistochemistry
Male
Middle Aged
Mutation
Myelin P0 Protein / biosynthesis
Myelin P0 Protein / genetics*
Myelin Sheath / pathology
Myelin-Associated Glycoprotein / biosynthesis
Neural Conduction
Sural Nerve / metabolism
Sural Nerve / pathology
Sural Nerve / ultrastructure

Substances

Myelin P0 Protein
Myelin-Associated Glycoprotein