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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion
Neurology, Volume 45, No. 11, Year 1995
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Description
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disease characterized by recurrent episodes of acute nerve palsies. We performed a clinical, electrophysiologic, and molecular study of 13 French families with HNPP associated with a chromosome 17∼11.2 deletion in 36 individuals. There were electrophysiologic abnormalities in all symptomatic (n = 28) and asymptomatic (n = 8) deletion carriers, even in childhood. Bilateral delayed distal motor latency of the median nerve at the wrist, reduced sensory velocity in the palm-wrist segment, and delayed distal motor latency or reduced motor velocity in the peroneal nerve was diagnostic in at-risk relatives. This large series confirms the reliability of molecular analysis combined with a simplified electrophysiologic examination for the diagnosis of HNPP associated with 17p11.2 deletion. © 1995 American Academy of Neurology.
Authors & Co-Authors
Gouider, R.
France, Paris
Inserm
France, Paris
Hôpital Universitaire Pitié Salpêtrière
LeGuern, Éric
France, Paris
Inserm
Gugenheim, Michel
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Tardieu, Sandrine
France, Paris
Inserm
Maisonobe, Thierry
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Leǵer, Jean Marc
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Vallat, Jean Michel
France, Limoges
Hopital Dupuytren
Agid, Yves A.
France, Paris
Inserm
Brice, Alexis
France, Paris
Inserm
Statistics
Citations: 128
Authors: 9
Affiliations: 3
Identifiers
Doi:
10.1212/WNL.45.11.2018
ISSN:
00283878
Research Areas
Maternal And Child Health