TY - JOUR
T1 - Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies
AU - Schenone, Angelo
AU - Nobbio, Lucilla
AU - Caponnetto, Claudia
AU - Abbruzzese, Michele
AU - Mandich, Paola
AU - Bellone, Emilia
AU - Ajmar, Franco
AU - Gherardi, Gianfranco
AU - Windebank, Anthony J.
AU - Mancardi, Gianluigi
PY - 1997/12/1
Y1 - 1997/12/1
N2 - 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.
AB - 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.
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U2 - 10.1002/ana.410420607
DO - 10.1002/ana.410420607
M3 - Article
C2 - 9403478
AN - SCOPUS:0031441542
VL - 42
SP - 866
EP - 872
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 6
ER -