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Ultrastructural Immunocytochemical Abnormalities of Peripheral Myelin Proteins in Hereditary Sensory‐Motor Neuropathies: 12 cases
Author(s) -
ANANI THIERRY,
SINDOU PHILIPPE,
RICHARD LAURENCE,
DIOT MARTINE,
VALLAT JEANMICHEL
Publication year - 1999
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1999.tb08581.x
Subject(s) - myelin , immunocytochemistry , pathogenesis , pathology , sural nerve , peripheral myelin protein 22 , biology , medicine , neuroscience , central nervous system
Hereditary sensorimotor neuropathies form a heterogeneous group of genetically determined diseases, of which Charcot‐Marie‐Tooth (CMT) disease is the most common. In order to establish relations between genotype and the expression of peripheral myelin proteins, we carried out a quantitative study by ultrastructural immunocytochemistry of several myelin proteins (PMP22, P 0 , MBP) on sural nerve biopsy samples from 12 unrelated CMT patients. The diagnosis of CMT was based on the clinical, electrophysiological, and histological findings along with those of molecular biological studies. CMT X diagnoses were not included in this study. The expression of myelin proteins was well correlated with the molecular biological findings in these patients. The results also provided evidence for interference between different myelin proteins. Our findings are in line with the results from animal studies (trembler and knock‐out mice), which may provide insights into the pathogenesis of these human conditions.