Uncompacted myelin lamellae in peripheral nerve biopsy.

Abstract

Since 1979, the authors have studied 49 peripheral nerve biopsies presenting uncompacted myelin lamellae (UML). Based on the ultrastructural pattern of UML they propose a 3-category classification. The first category includes cases displaying regular UML, which was observed in 43 cases; it was more frequent in 9 cases with polyneuropathy organomegaly endocrinopathy m-protein skin changes (POEMS) syndrome as well as in 1 case of Charcot-Marie-Tooth 1B with a novel point mutation in the P0 gene. The second category consists of cases showing irregular UML, observed in 4 cases with IgM monoclonal gammopathy and anti-myelin-associated glycoprotein (MAG) activity. This group included 1 benign case and 3 B-cell malignant lymphomas. The third category is complex UML, which was present in 2 unrelated patients with an Arg 98 His missense mutation in the P0 protein gene. Irregular and complex UML are respectively related to MAG and P0, which play a crucial role in myelin lamellae compaction and adhesion.

• Authors: Claude Vital, Anne Vital, Sandrine Bouillot, Alexandre Favereaux, Alain Lagueny, Xavier Ferrer, Christiane Brechenmacher, Klaus G Petry
• Journal: Ultrastructural pathology (Ultrastruct Pathol) 2003 Jan-Feb Vol. 27 Issue 1 Pg. 1-5 ISSN: 0191-3123 [Print] England
• PMID: 12554530 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Myelin P0 Protein
• Myelin-Associated Glycoprotein
• Histidine
• Arginine

Topics

• Arginine (genetics)
• Biopsy
• Charcot-Marie-Tooth Disease (genetics, pathology)
• Histidine (genetics)
• Humans
• Lymphoma, B-Cell (pathology)
• Microscopy, Electron
• Mutation
• Myelin P0 Protein (genetics)
• Myelin Sheath (classification, ultrastructure)
• Myelin-Associated Glycoprotein (analysis)
• POEMS Syndrome (pathology)
• Paraproteinemias (pathology)
• Peripheral Nerves (ultrastructure)
• Peripheral Nervous System Diseases (genetics, pathology)