title: Axon damage in CMT due to mutation in myelin protein P0.
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.
authors.affiliation: Department of Neurology, Zentrum für klinische Forschung, University of Ulm, Helmholtzstrasse 8/1, Ulm, Germany. Oliver.Hanemann@medizin.uni-ulm.de
authors.forename: C O
authors.initials: CO
authors.lastname: Hanemann
authors.forename: A A
authors.initials: AA
authors.lastname: Gabreëls-Festen
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001369:Axons / Q000473:pathology* / Q000502:physiology*; D001706:Biopsy; D002452:Cell Count; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018993:Myelin P0 Protein / Q000096:biosynthesis / Q000235:genetics*; D009186:Myelin Sheath / Q000473:pathology; D018992:Myelin-Associated Glycoprotein / Q000096:biosynthesis; D009431:Neural Conduction; D013497:Sural Nerve / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure
chemical_list: D018993:Myelin P0 Protein; D018992:Myelin-Associated Glycoprotein