Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.
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.
Thomas
F P
FP
Department of Pathology (Division of Neuropathology), College of Physicians & Surgeons, Columbia University, New York, NY.
Lebo
R V
RV
Rosoklija
G
G
Ding
X S
XS
Lovelace
R E
RE
Latov
N
N
Hays
A P
AP
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*
D015816:Cell Adhesion Molecules, Neuronal; D018993:Myelin P0 Protein; D009185:Myelin Proteins