The epidemiology of amyotrophic lateral sclerosis in Moscow (Russia).

Objectives: To estimate the incidence of amyotrophic lateral sclerosis (ALS) in Moscow by investigating multiple sources of cases. Incidence rates from previous Russian studies ranged from 0.3 to 0.7 per 100,000/year. Methods: A retrospective study of the incidence of ALS was performed in the South district of Moscow (population, 1,760,000, 2015). Several data sources were investigated. The medical records of the calendar year 2015 were examined by an ALS expert who accepted only patients with definite or probable ALS according to the revised El Escorial criteria. Crude and standardized incidence rates were calculated, the latter adjusted to the Russian and the European population. Results: Twenty-two patients were found, accounting for a crude incidence of 1.25/100,000/year (95% CI 0.78-1.89) and a standardized incidence of 1.22 (Russia) and 1.28 (Europe). The sample included 11 men and 11 women aged 36-73 years (mean 56). Five patients (23%) had bulbar onset ALS. The mean diagnostic delay was 12.8 ± 9.2 months (8.5 ± 4.8 in men and 17.2 ± 10.6 in women) (p = 0.02). Family history of ALS was present in two cases. Conclusion: The incidence of ALS in the Russian Federation is higher than previously reported but lower than in other countries. Poor diagnostic ascertainment, particularly in women, and the shorter life expectancy of the Russian population are possible explanations.

Hirayama disease: analysis of cases in Russia.

The fourteen cases of Hirayama disease (HD) are presented in this article. HD is seldom disease characterized by juvenile muscular atrophy of upper extremities and benign course. All cases were diagnosed in the Research Center of Neurology (Moscow, Russia) during the year 2015-2017. Such methods as MRI (magnetic resonance imaging), EMG (electromyography), and NCS (nerve conduction studies) have been used to confirm diagnosis of HD. Transcranial magnetic stimulation was used to exclude upper motor neuron involvement in two cases. The original scale of neurological disturbances in HD has been proposed by authors to reveal correlations of HD severity with age of patients and duration of disease.Most of patients with HD are young males with common clinical signs. Detected MRI and EMG data were also comparable with previous publications. Independence of HD severity from age and duration of the disease may be the result of individual physical characteristics of dura mater and other structures of the cervical vertebra. In some our cases, amyotrophic lateral sclerosis and other neurological disorders were misdiagnosed before. In view of different prognosis in these pathologies and possible correction of HD, early diagnosis is very important.

The Russian Human Radiobiological Tissue Repository: A Unique Resource for Studies of Plutonium-Exposed Workers.

The Russian Radiobiological Human Tissue Repository (RHTR) at the Southern Urals Biophysics Institute in Ozyorsk, Russia, was established to collect and store biospecimens supporting research on health consequences of chronic, low-dose radiation exposures. The purpose of this paper is to describe the RHTR resources and the availability of high-quality biological specimens. RHTR has enrolled two groups of subjects from 1951 to the present time: exposed workers at the Mayak Production Association facilities and residents of Ozyorsk who were never occupationally exposed to ionizing radiation (controls). Biospecimens are collected with informed consent of participants and are annotated with demographic, occupational, dosimetry and medical information. To date, 900 individuals have provided surgical tissues and 1000 have provided autopsy tissues. Blood samples are also collected and stored. Familial DNA is available from parent-offspring triads. Biospecimens and annotated data are available to interested scientists worldwide, via the RHTR website.

Genetic studies of Russian patients with amyotrophic lateral sclerosis.

Our objective was to search for mutations in genes SOD1, TARDBP, C9orf72, ANG, ATXN2 and VEGF in Russian patients with amyotrophic lateral sclerosis (ALS). A group of 208 Russian patients with ALS was examined. Molecular genetic analysis was conducted using direct sequencing, fragment analysis, and real-time PCR. We found eight different point mutations in the SOD1 gene, with the frequency of mutations being 50% in familial ALS and 3% in sporadic ALS. No mutations were found in exon 6 of the TARDBP gene; however, deletion c.715-126delG in intron 5 of TARDBP was over-represented in ALS patients compared to controls (38% vs. 26.6%; χ(2 )= 13.17; p = 0.002). Hexanucleotide repeat expansion of the C9orf72 gene was revealed in 2.5% of sporadic ALS patients. Mutations in the ANG gene were identified in 1.5% of sporadic ALS patients. The presence of an intermediate number (28-33) of GAC repeats in the ATXN2 gene was observed significantly more often in the study group compared to the control group (5% vs. 1.7%; χ(2 )= 3.89; p = 0.0486). In the cohort examined, we found an association between the disease and the risk A-allele and the A/A genotype at the -2578С/А locus of the VEGF gene. In conclusion, we determined for the first time the genetic basis of ALS in a Russian population.