We provide data on neurophysiology and ultrasound of phrenic nerve. In the visualization of the phrenic nerve the main role is played by ultrasound. Conduction study of the phrenic nerve, if performed properly, is a simple and reliable method. In pediatric population, though, age dynamic and wide range of normative parameters has to be taken into the consideration. Ultrasound of the phrenic nerve allows visualization of the anatomical continuity of the nerve trunk of the nerve at the level of the neck and objectively assess the thickness of the nerve, which provides additional information to the doctor in clinical practice.

Introduction. The clinical picture of Wilson-Konovalov disease (WKD) is characterized by pronounced polymorphism and classical laboratory findings often do not allow to make diagnosis. The most reliable way to confirm the presence of WKD is to identify mutations in the ATP7B gene. Materials and methods. In the course of the research, we developed a method of genetic diagnostics, including realtime PCR to determine a point mutation in combination with fragment analysis to identify deletions and insertions. 20 patients were collected in whom the diagnosis of WKD was made basing on the results of clinical and laboratory criteria of the disease according to the Leipzig scoring system. All patients were genotyped with the developed technique. Anamnestic, clinical, and laboratory data were collected for 12 patients. Results. We detected the following aberrancies in patients from the group 1: heterozygous mutations according to H1069Q (60%), homozygous mutations according to H1069Q (30%), combination of mutations 3627_3630del.4/ H1069Q in heterozygous form (5%), combination of mutations1770insT/H1069Q in heterozygous form (5%). Discussion. Clinical feature of WKD is non-specific, and the combination of liver and nervous system damage typical for WKD, Kayser–Fleischer rings are far from being present in all patients or appear in the later stages of the disease. A considerable amount of false-negative results of WKD laboratory markers indicates the insufficient sensitivity of these research methods. The variability of clinical and laboratory markers of WKD delays the etiology diagnosis and the onset of pathogenetic therapy. Conclusion. The developed method of genetic diagnosis of WKD is recommended for all patients of the Russian population with suspected hepatic, neurological or mixed form of WKD in order to make a timely diagnosis and start treatment.

The genes ZFAT and ZFHX4 encoding the zinc finger proteins were previously identified as predisposing to autoimmune pathology and various cancer diseases, as well as influencing on therapeutic effect of interferonbeta in patients with multiple sclerosis. The aim of the study is to determine the associations of single nucleotide polymorphisms rs11787532 ZFHX4 and rs733254 ZFAT and development and severity of clinical manifestations of multiple sclerosis in Perm krai. A significant predominance of the C/A genotype of rs733254 ZFAT gene, and GC and CC haplotypes in people with multiple sclerosis was found. The association of single nucleotide polymorphisms with the severity of clinical manifestations of multiple sclerosis was not detected.

Introduction: Early infantile epileptic encephalopathy (EIEE) is a group of monogenic epilepsies which are caused by mutations in more than 70 genes. Material and methods: The data of a long-term dynamic EEG observation of a girl with EIEE9 (OMIM 300088) caused by a mutation in the PCDH19 gene (OMIM 300460) are presented. Results: Correct etiological diagnosis of the hereditary disease was established only at the age of 14 years. Epilepsy debuted at the age of 8 months as a series of one minute long generalized tonic convulsions with myoclonia in the left arm. After further examination the symptoms were mistakenly regarded as viral encephalitis. Subsequently, clusters of convulsive seizures provoked by febrile states periodically were occurring several times per year irrespective of the type and amount of anticonvulsants taken. Despite the fact, that no significant structural changes in the brain we found during neuroimaging, pharmacoresistant focal epilepsy gradually developed. At the age of 14 years, as part of a pre-surgical examination for two days, the complete abolition of anticonvulsants and the implantation of subdural electrodes were performed. Focal motor seizures with a transition to bilateral tonic-clonic seizures were recorded, during which the primary generation of epileptic activity was localized in the left temporal lobe. А thorough examination with a clarification of the monogenic origin of the disease made it possible to avoid undue surgery on the brain. Discussion: The presented observation is a clear example of why a timely genetic examination is important for establishing correct diagnosis, adequate selection of anticonvulsants and a making a right decision on the possibility of surgical treatment.

Introduction. To date, DYNC1H1 gene mutations are known for large number of hereditary diseases. It is believed that different mutations have variable effects to protein function and, accordingly, to various clinical manifestations. Results. There are a clinical and genetic characteristics of two Russian patients with two types of diseases: spinal muscular atrophy with predominant lesion of the lower extremities (SMALED) and non-syndromic mental retardation type 13 (MR13) in combination with a brain malformations and epilepsy due to newly identified mutations in the DYNC1H1 gene. Conclusion There is some evidence in support of the hypothesis that the amino acid sequence changing in the tail domain of dynein lead to the appearance of SMALED, and in the motor domain lead to MR13. Exome or genome sequencing are required as the main method for their diagnosis due to the high genetic heterogeneity of non-syndromic MR and SMALED, the lack of specific clinical markers and hotspot mutations in the DYNC1H1 gene.

Memantine is a reversible N-methyl-D-a spartate (NMDA) receptor blocker. The paper reports the results of an investigation aimed at the assessment of memantine effectiveness, safety and tolerability in patients with non-dementia cognitive impairment. Two hundred and forty (240) patients were enrolled in this open-label, comparative, multicentre study. In these subjects cognitive disorders were less severe than dementia (MMSE score made up 22—27). Mean age was 69.2 + 5.7 years old. Among them 148 patients received acatinol memantine at a dosage of 20 mg daily within 6 months and 92 subjects comprised a comparison group. Memantine administration resulted in decreased severity of cognitive impairment, first of all due to the improvement of dysregulatory, mnestic and visual-spatial disorders. Besides, the treatment caused the alleviation of emotional disturbances. The degree of therapeutic effectiveness was independent from the presence or lack of cardiovascular diseases in the examined population. Further double-blind studies aimed at the assessment of memantine effectiveness in patients with non-dementia cognitive impairment are necessary.