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We present results of clinical and electrophysological analysis of34 patients with recurrent facial neuropathy (rFN). Its frequency(10.9%) among all forms of facial neuropathies was determined,and clinical and EMG characteristics, as well as possiblerisk factors, were described. A separate group of familial rFN wasidentified, and these patients exhibited high percentage of subclinicalperipheral nerve involvement. Positive family history,presence of relapses and electroneurographic features allowed tosuspect hereditary neuropathy with liability to pressure palsy inthese patients. However, molecular analysis of the РМР22 genefailed to reveal a typical gene deletion. These results leave openthe question about etiology and pathophysiologic mechanismsof rFN and warrant further studies of genetic defect underlyinga familial form of rFN.

untington’s disease (HD) is one of the most severe and fatal hereditary diseases of the nervous system. The paper outlines the history of studies of the disease, its key features and development mechanisms in terms of recent advances in molecular biology. The neuropsychiatric manifestations of HD, which are a major disabling factor, are characterized. Mental and emotional-volitional disorders are systematized; possible methods for correction of the clinical manifestations of HD are presented. A special emphasis is made on the fact that cooperation between different specialists and with a patient’s relatives is of importance in achieving the best treatment results. The authors present their experience in studying the psychopathological manifestations of HD at the Neurology Research Center, Russian Academy of Medical Sciences, and the results of an integrated study of cognitive and neuropsychological characteristics of at-risk asymptomatic HD gene carriers, by using a battery of psychological tests and the newest methods of electroneurophysiology and neuroimaging, and conclude that there is a preclinical disease stage. The authors’ experience with pharmacotherapy for neuropsychiatric manifestations and cognitive deficit in HD patients is described.

Hereditary ataxias represent a clinically and genetically heterogeneousgroup of disorders, modern classification of which isbased on identification of a primary genetic and/or biochemicaldefect in examined patients and their family members. Recently,autosomal recessive ataxia with oculomotor apraxia wasdescribed; it is characterized by combination of coordinationproblems with specific abnormalities of voluntary eye movementsand, probably, by high prevalence if a majority of populations.We presented the first description of this phenotype inRussia observed in two sibs (sisters). Biochemical screening(increased serum level of alphafetoprotein) and molecularanalysis enabled to diagnose in this family ataxia-oculomotorapraxia, type 2 (AOA2) the disorder caused by pathology ofsenataxin protein and mutations of the respective gene SETX onchromosome 9q34.

We performed search for mutations in the LRRK2, PRKN (parkin)and SNCA (a-synuclein) genes in 359 patients of Slavonic ethnicorigin (169 men and 190 women) with Parkinsons disease, ofwhom 345 represented sporadic cases. Age at the disease onset wasfrom 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 LRRK2as well as of structural rearrangements in the PRKN and SNCAgenes it was established that in Parkinsons disease the frequencyof these mutations is 7.5% (27 patients of 359). The mutationLRRK2-G2019S was found in 1.1% of patients, parkin gene exonic rearrangements in 5.8% (including 10.7% patients with an earlyform of Parkinsons disease and 1.7% patients with a late form ofthe disease), and SNCA gene duplication in two patients. The performed analysis showed marked heterogeneity of the molecularstructure of Parkinsons disease in Russian population, whichallows 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 Parkinsons disease changes significantly the familial prognosis and requires genetic counseling in persons from thehigh risk group.

The aim of the study reported here was to investigate impairments on the learning of voluntary control of the center of pressures using visual feedback in patients with lesions of the corticospinal and nigrostriatal systems. Participants were 33 patients with Parkinson's disease and 20 patients with hemipareses due to circulatory lesions in the basin of the middle cerebral artery. Subjects stood on a stabilometric platform and used two computer games over 10 days to learn to shift the body relative to the foot to move the centre of pressures, indicated by the position of a cursor on the screen, with the target and to move the target to a specified part of the screen. The games differed in terms of the postural tasks. In one, the direction of movement of the center of pressures was not known to the subjects, and subjects learned a general strategy for posture control; the other formed a strictly defined postural coordination. Both groups of patients were found to have impairments of voluntary control of the position of the center of pressures. There were no differences between groups of patients, in terms of the severity of the initial performance deficit in the task involving shifts of the center of pressures in different directions (the general strategy for controlling the center of pressures), while learning of this task was more difficult for patients with Parkinson's disease. The initial deficit in the fine postural coordination task was more marked in patients with Parkinsonism, though learning in these patients was significantly better than in patients with hemipareses. It is suggested that the mechanisms of involvement of the nigrostriatal and corticospinal systems in learning the voluntary control of posture have elements in common as well as unique elements. [ABSTRACT FROM AUTHOR]