Ultrastructural PMP22 expression in inherited demyelinating neuropathies.
Charcot-Marie-Tooth type 1A (CMT-1A) disease results from a duplication of the PMP22 gene on chromosome 17p11.2. A deletion of the same region causes hereditary neuropathy with liability to pressure palsies (HNPP). We examined the expression of PMP22 in sural nerve biopsies from 2 unrelated patients with CMT-1A, 2 unrelated patients with HNPP, and control patients. The ultrastructural immunocytochemical quantitative analysis of cases of CMT-1A and HNPP showed, respectively, an elevated and reduced expression of PMP22 level compared with controls.
Vallat
J M
JM
Sindou
P
P
Preux
P M
PM
Tabaraud
F
F
Milor
A M
AM
Couratier
P
P
LeGuern
E
E
Brice
A
A
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D046508:Culture Techniques; D015870:Gene Expression; D006801:Humans; D007150:Immunohistochemistry; D005810:Multigene Family / Q000235:genetics; D009431:Neural Conduction / Q000235:genetics; D013497:Sural Nerve / Q000503:physiopathology* / Q000648:ultrastructure*