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Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion by P. Mouton; S. Tardieu; R. Gouider; N. Birouk; T. Maisonobe; O. Dubourg; A. Brice; E. LeGuern; P. Bouche is a Medicine article available to read on EtoBox.

What is Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion about?

__Objective:__ To study the clinical and electrophysiologic features of a large series of carriers of the 17p11.2 deletion. __Background:__ The 17p11.2 deletion is associated in most patients with recurrent acute nerve palsies, which is the typical presentation of hereditary neuropathy with liability to pressure palsies (HNPP). Nevertheless, a few other phenotypes have been reported. __Methods:__ On the basis of clinical and electrophysiologic data, the authors conducted a retrospective study of 99 individuals with the 17p11.2 deletion referred to their neurogenetic department between 1993 and 1997. __Results:__ In addition to the typical presentation of HNPP, they describe five other phenotypes in 15 patients: recurrent positional short-term sensory symptoms, progressive mononeuropathy, Charcot–Marie–Tooth disease-like polyneuropathy, chronic sensory polyneuropathy, and chronic inflammatory demyelinating polyneuropathy-like, recurrent subacute polyneuropathy; and 14 asymptomatic patients. In all the deletion carriers, regardless of their phenotype and by the second decade, the authors found a characteristic, multifocal electrophysiologic neuropathy consisting of a diffuse increase

Who reads Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion?

Author

P. Mouton; S. Tardieu; R. Gouider; N. Birouk; T. Maisonobe; O. Dubourg; A. Brice; E. LeGuern; P. Bouche

Publisher

Ovid Technologies (Wolters Kluwer Health)

Published

1999

Language

EN

Field

Medicine (Health Sciences)