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Ultrastructural PMP22 expression in inherited demyelinating neuropathies
Author(s) -
Vallat JeanMichel,
Sindou Philippe,
Preux PierreMarie,
Tabaraud Fransois,
Milor AndréMichel,
Couratier Philippe,
Leguern Eric,
Brice Alexis
Publication year - 1996
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410390621
Subject(s) - pathology , gene duplication , sural nerve , immunocytochemistry , medicine , ultrastructure , chromosome , disease , biology , gene , genetics
Charcot‐Marie‐Tooth type 1A (CMT‐1A) disease results from a duplication of the PMP 22 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.