Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies

Angelo Schenone, Lucilla Nobbio, Claudia Caponnetto, Michele Abbruzzese, Paola Mandich, Emilia Bellone, Franco Ajmar, Gianfranco Gherardi, Anthony John Windebank, Gianluigi Mancardi

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Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a deletion in chromosome 17p11.2, which includes the gene for the peripheral myelin protein 22 (PMP-22). A 'gene dosage' effect is probably the mechanism underlying HNPP, but the amount of PMP-22 mRNA in sural nerves of HNPP patients is highly variable and the role of PMP-22 underexpression in impairing myelination has yet to be clarified. We have studied 6 genetically proven HNPP patients, to evaluate the relationship between PMP-22 mRNA levels, and clinical, neurophysiological, and neuropathological findings. Underexpression of PMP-22 mRNA correlates with disease severity and with mean axon diameter and g ratio, but not with myelin thickness, number of 'tomacula,' or nerve conduction parameters. Our findings further confirm that underexpression of PMP-22 is the main pathogenetic mechanism underlying the severity of clinical symptoms and signs in HNPP. Smaller axons in sural nerves of HNPP patients with lower PMP-22 levels suggests that underexpression of PMP-22 may also affect axon development.

Original languageEnglish (US)
Pages (from-to)866-872
Number of pages7
JournalAnnals of Neurology
Volume42
Issue number6
DOIs
StatePublished - Dec 1997

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ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Schenone, A., Nobbio, L., Caponnetto, C., Abbruzzese, M., Mandich, P., Bellone, E., Ajmar, F., Gherardi, G., Windebank, A. J., & Mancardi, G. (1997). Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies. Annals of Neurology, 42(6), 866-872. https://doi.org/10.1002/ana.410420607