Open AccessClinico-electrophysiological analysis of family cases with heredited neuropathy and predisposition to compression paralyses
Author(s) -
N. G. Savitskaja,
С. Н. Иллариошкин,
I. A. Ivanova-Smolenskaja,
V. P. Phedotov,
С. С. Никитин,
S. A. Klushnikov
Publication year - 2001
Publication title -
nevrologičeskij vestnik
Language(s) - English
Resource type - Journals
eISSN - 2304-3067
pISSN - 1027-4898
DOI - 10.17816/nb80835
Subject(s) - medicine , electrophysiology
Clinico-electrophysiological analysis of the most common in Russia family selection, having a particular form of demyelinization neuropathy hereditary neuropathy with predisposition to compression paralyses (HNPCP) has been presented. In all the families the diagnosis has been confirmed with the help of DNA diagnostics, based upon revealing of typical deletion in chromosome field 17.p.11.2. Besides a classical recurrent variant some other phenotypes of the disease have been described: recurrent positional sensoric symtoms, progressing mononeuropathy, progressing polyneuropathy. Electrophysiological signs have been determined, which are the most informative for HNPCP. These signs can used for clinical diagnostics of the disease followed by DNA diagnostics. Relative incidence of this special form of neuropathy among acquired compression mononeuropathies (6%) and their recurrent variants (50%) has been counted.