Search

Some lesions were revealed in the system of oxidation mitochondrial phosphorylation in Fredreich disease, as well as their correlation with the disease course at its different clinical variants. A vivid tendency has been traced to normalization of these cytochemical indices after single treatment by medicines, stabilizing mitochondrial functions.

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.