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, 39 (6), 813-7

Ultrastructural PMP22 Expression in Inherited Demyelinating Neuropathies

Case Reports

Ultrastructural PMP22 Expression in Inherited Demyelinating Neuropathies

J M Vallat et al. Ann Neurol.


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.

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