Vol 1, No 1 (2007)

The article summarizes results of longgterm investigations performed in the Institute of Neurology RAMS in most actual problems of cerebrovascular disorders. The conception of heterogeneity of ischemic stroke is presented and key mechanisms of local brain ischemia are shown. Confirmed is the efficacy of the multidisciplinary approach to study of this problem which defined the formation of new research topics: cardioneurology, hemostasiology in cerebrovascular disorders, restorative neurology and neurorehabilitation. Perspectives of further developpment of this actual field of modern medicine are outlined.

We performed search for mutations in the LRRK2, PRKN (parkin) and SNCA (a-synuclein) genes in 359 patients of Slavonic ethnic origin (169 men and 190 women) with Parkinson’s disease, of whom 345 represented sporadic cases. Age at the disease onset was from 23 to 84 years, and patients with juvenile parkinsonism (debut of symptoms before 20 years) were excluded from enrollment. On study of a major mutation G2019S in the gene LRRK2 as well as of structural rearrangements in the PRKN and SNCA genes it was established that in Parkinson’s disease the frequency of these mutations is 7.5% (27 patients of 359). The mutation LRRK2-G2019S was found in 1.1% of patients, parkin gene exonic rearrangements in 5.8% (including 10.7% patients with an early form of Parkinson’s disease and 1.7% patients with a late form of the disease), and SNCA gene duplication in two patients. The performed analysis showed marked heterogeneity of the molecular structure of Parkinson’s disease in Russian population, which allows to consider this disorder not to be a unified form but rathera group of separate (although similar) neurodegenerative syndromes. The identification of inherited mutations in a part of sporadic cases of Parkinson’s disease changes significantly the familial prognosis and requires genetic counseling in persons from the ‘high risk’ group.

The current conception is that multiple sclerosis pathogenesis comprises an initial inflammatory phase, followed by a phase of demyelination and, last, a neurodegenerative phase. The mechh anisms of inflammatory reactions and axonal loss have been disscussed. The crucial role of the immune system in disease pathogenesis has important therapeutic implications. The immunological effects of glucocorticosteroids underlie the beneficial effect on multiple sclerosis relapse. Two classes of immunomodulators (interferon β, glatiramer acetate) are approved for long term treatment of multiple sclerosis. Immunosuppressive agents and immunoglobulins used in treatment have been shown to exert immunomodulatory effects. Future developments of multiple sclerosis therapy have been discussed.

In the case presented, we performed for the first time verification of compression of the subclavian artery by the scalenus anterior muscle, in scalenus syndrome, with the use of multispiral computerized tomography in the angiography regimen. Detailed description of the disease clinical picture is given, and indications and main steps of the operation (scalenotomy) are presented. A clear positive effect of the performed surgical treatment is demonstrated, as confirmed clinically (disappearance of symptoms of right hand ischemia, right brachial plexus compression and vertebral artery syndrome) and by data of functional investigations (ultrasound dopplerography and brainstem auditory evoked potentials).