The frequency of obstetric palsy ranges from 0.5 to 3.0 cases per 1000 live births. The functional outcome disorders are determined by the nature of the damage and the number of damaged roots of the brachial plexus. There are 50 % of patients have complete recovery, 15 % have severe functional disorders of the upper limb, and 35 % have some limitation of the shoulder joint function. There are 3 variants of residual phenomena in children with obstetric palsy: paresis, paralysis, and co‑contraction. The article describes the mechanisms of nerve regeneration in children and adults, the pathogenesis of contractions and motor disorders in general in children with obstetric palsy, and modern methods of treatment of co‑contraction. This article will be useful for neurologists, rehabilitation specialists, and orthopedists.

Background. Lissencephaly (LIS) is a spectrum of malformations of the cerebral cortex that occur as a result of impaired migration of neuronal precursors to the cortical plate and the formation of furrows and convolutions in the post‑migration period of embryonic development. In recent years, a significant role of hereditary factors in the occurrence of LIS has been shown due to the improvement of methods of molecular genetic diagnostics. Today, 13 genetic variants have been identified in the LIS group, six of which are inherited autosomal recessively, five are autosomal dominant, and two are linked to the X chromosome. It is shown that 80 % of cases of hereditary LIS is caused by mutations in two genes: PAFAH1B1, which is responsible for the occurrence of the LIS 1 type with an au‑ tosomal dominant type of inheritance, and in the DCX gene, localized on the X chromosome. The rest of the genetic variants account for from 1 % to 5 % of cases of defects accompanied by dysgenesis of the cerebral cortex. In recent years, the number of works devoted to the analysis of clinical and genetic characteristics of monogenic variants of LIS has increased. The results of such studies will allow us to improve our understanding not only of the pathogenetic mechanisms of this group of diseases, but also of the molecular basis for the formation of brain structures in the normal embryonic period.

Objective: to describe the clinical and genetic characteristics of three Russian patients with autosomal dominant LIS type 3 (OMIM: 611603) caused by mutations in the TUBA1A gene.

Materials and methods. All patients were under observation in the consultative and diagnostic department of Research Centre for Medical Genetics. The diagnosis was established on the basis of clinical data, genealogical anamnesis, results of brain MRI, EEG night video monitoring and exome sequencing by NGS. The validation of the identified nucleotide substitutions and analysis of the disease segregation were performed using the Sanger direct automatic sequencing method.

Results. The clinical and genetic characteristics of three patients with newly identified and previously described mutation in the TUBA1A gene were analyzed. Possible effects of new missense mutations in the gene on the function of the protein product of the gene are discussed.

Conclusions. The results of the analysis of the clinical and genetic characteristics of the patients we observed contribute to the study of the polymorphism of clinical manifestations resulting from mutations in the TUBA1A gene. The previously stated assumption about a wide range of malformations of the brain in patients with mutations in this gene was confirmed, which should be taken into account when making a diagnosis.

Background. Gene VCP encoding multifunctional protein valosin produces a number of rare autosomal dominant late-onset disorders with multiple symptoms (muscular dystrophy with inclusion bodies in part of cases, Paget disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis and few others) in different combinations often varying in one family. Rare unusual phenotypes are difficult for recognition. Molecular methods facilitate diagnostics.
Objective: to describe first Russian VCP-related familial case detected by exome sequencing and present a review on poorly known disorder.
Materials and methods. In a Russian family with 4 patients in 2 generations 6 persons were examined: 2 patients, 3 clinically unaffected possible heterozygous carriers and patient’s mother with no genetic risk; medical information was received about two deceased patients. Methods: clinical and genealogical; biochemical: blood creatine kinase, alpha-glucosidase; molecular: clinical exome sequencing, Sanger familial sequencing, bioinformatical analysis.
Results. In 48-year-old proband and 50-year-old brother whose former diagnosis was hereditary neuropathy proximal muscular dystrophy with onset in 43–45 years, rapid progression and moderately raised creatine kinase (341–572 U/l) was found out. Since 45 years the proband also had Paget disease. Both brothers had no evident dementia (neuropsychological examination was not performed). The younger brother since 32 years suffered typical amyotrophic lateral sclerosis, evidently combined with dementia, he died in 43 years being severely disabled; brain is not described in autopsy record. The father had rapidly progressing walking difficulties since 40 years without mental, speech or swallowing disturbances; he was never examined and died in 48 years of heart disease (?). Clinical exome sequencing in the proband detected in VCP exon 5 one of common mutations с.463С>T (p.Arg155Cys) in heterozygous state. Familial Sanger sequencing found out the mutation in him, in the brother and in clinically unaffected 36-year-old sister, 22-year-old daughter and 15-year old son, thus diagnosing preclinical stage of the disease.
Conclusions. The case illustrates diversity of VCP-related disorders and necessity to take into consideration all phenotype spectrum. DNA-confirmed diagnosis permits genetic counseling.

Background. Inflammatory polyneuropathies (IPNP) are diseases caused by an immune response against antigens in the peripheral nervous system. Epidemiological research is essential for health resource planning.
Objective: to assess the clinical and epidemiological characteristics of acute and chronic IPNP in adults in the Leningrad region.
Materials and methods. We analyzed the incidence of acute and chronic IPNP the Leningrad region for the last 24 years.
Results. A gradual increase in the incidence rate since 2003 with slight fluctuations has been shown. A particularly significant increase was recorded in 2015 from 14 (2014) to 22 patients, while in previous years fluctuations ranged from 4 to 10 people. In 2016 and 2017, the number of cases increased even more to 26–27 per year (there are 1 600 000 residents over 18 years of age in the region). At the same time, an increase in the incidence of both Guillain–Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP) was noted. The incidence of GBS in the last 10 years was 0.18–0.88, the incidence of CIDP was the same 0.18–1.0 per 100 000 population. With GBS, women were more likely to get sick, with CIDP – men. With GBS, the debut was more often in winter (35 %), in summer and autumn, 25 % each, less often in spring – 17 %. The average age of GBS development in our study was 50.3 years. CIDP also fell ill at all age periods from 19 to 84 years (average age 55.6 years). The most common GBS triggers were acute respiratory viral infections in 36 % and enterocolitis in 13 %. Respiratory disorders requiring mechanical ventilation were observed in 8 % of patients with GBS.
Conclusions. The incidence of IPNP in adults, both acute and chronic in the Leningrad region, is growing with some fluctuations. This should be taken into account for health resource planning.

Dyke–Davidoff–Masson syndrome is a possible cause of several pathologies and has rare appearance in clinical practice. One of these causes is a perinatal stroke. The man 59‑year‑old applied to the Federal center of brain and neurotechnologies had this one. The patient had bilateral tonic‑clonic seizures with loss of consciousness, and remission was observed during the last 4 years with antiepileptic drugs treatment. Complex radiological and func‑ tional diagnostics were performed with electroencephalography, magnetic resonance imaging, magnetic resonance tractography, functional magnetic resonance imaging. As a result of research many signs of Dyke–Davidoff–Masson syndrome were found. On the example of damage in the perinatal period and subsequent adaptation of the brain, its plasticity with respect to speech function was shown.