title: Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.
abstract: We performed morphological and immunohistochemical studies on sural nerve biopsies from two members of a Charcot-Marie-Tooth type 1B family, in which a mutation of the P0 gene on chromosome 1 had been found. Biopsies showed a tomaculous neuropathy with loss of myelinated fibers and frequent small onion bulbs. Immunofluorescence with antibodies to P0 showed this protein to be present in tomaculous and non-tomaculous areas of the myelin sheath. The severity of the myelin abnormalities suggests that in this family Charcot-Marie-Tooth disease may result from a generalized disturbance of Schwann cells as a result of an abnormal P0 protein.
authors.affiliation: Department of Pathology (Division of Neuropathology), College of Physicians & Surgeons, Columbia University, New York, NY.
authors.forename: F P
authors.initials: FP
authors.lastname: Thomas
authors.forename: R V
authors.initials: RV
authors.lastname: Lebo
authors.forename: G
authors.initials: G
authors.lastname: Rosoklija
authors.forename: X S
authors.initials: XS
authors.lastname: Ding
authors.forename: R E
authors.initials: RE
authors.lastname: Lovelace
authors.forename: N
authors.initials: N
authors.lastname: Latov
authors.forename: A P
authors.initials: AP
authors.lastname: Hays
mesh_terms: D001706:Biopsy; D015816:Cell Adhesion Molecules, Neuronal / Q000032:analysis; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology*; D002878:Chromosomes, Human, Pair 1; D005455:Fluorescent Antibody Technique; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D018993:Myelin P0 Protein; D009185:Myelin Proteins / Q000032:analysis / Q000235:genetics; D009186:Myelin Sheath / Q000473:pathology; D012583:Schwann Cells / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology*
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D018993:Myelin P0 Protein; D009185:Myelin Proteins