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Background. LRRK2 mutations have emerged as the most prevalent and potentially treatable determinants of Parkinson’s disease (PD). Peculiar geographic distribution of these mutations has triggered an interest in genotyping PD cohorts of different ethnic backgrounds for LRRK. Objective. Here, we report on the results of LRRK2 screening in the first Central Asian PD cohort. Methods. 246 PD patients were consecutively recruited by movement disorder specialists from four medical centers in Kazakhstan, and clinicodemographic data and genomic DNA from blood were systematically obtained and shipped to the Institute of Neurology University College London together with DNAs from 200 healthy controls. The cohort was genotyped for five LRRK2 mutations (p.Gly2019Ser, p.Arg1441His, p.Tyr1699Cys, p.Ile2020Thr, and p.Asn1437His) and three East Asian disease-associated variants (p.Gly2385Arg, p.Ala419Val, and p.Arg1628Pro) via Kompetitive allele-specific polymerase chain reaction assay analysis. Results. None of the study subjects carried LRRK2 mutations, whereas the following Asian variants were found with insignificant odds ratios (OR): p.Gly2385Arg (1.2%, minor allele frequency (MAF) 0.007, OR 1.25, p=0.8), p.Ala419Val (3.7%, MAF 0.02, OR 1.5, p=0.4), and p.Arg1628Pro was found only in 1% of controls. p.Gly2385Arg was positive in a big family with PD and tremor, although with incomplete segregation. One early-onset PD subject was homozygous for p.Ala419Val who developed fast progression and severe dyskinesias. p.Ala419Val was associated with early-onset PD. Conclusions. We showed that East Asian LRRK variants could be found in Central Asian populations but their pathogenicity remains to be elucidated in larger PD cohorts.

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Our understanding of Parkinson’s disease (PD) has significantly accelerated over the last few years, but predominant advances have been made in developed, Western countries. Little is known about PD in the Central Asian (CA) and Transcaucasian (TC) countries. Here, we review the clinical characteristics, treatments used, epidemiology, and genetics of PD in CA and TC countries via a methodological search in MEDLINE, EMBASE, Scopus, Web of Science, and Google Scholar databases. For the acquisition of PD care-related data, the search was extended to the local web resources. Our findings showed that PD prevalence in the region is averaging 62 per 100,000 population. The mean age of onset is 56.4 ± 2.8 in females and 63.3 ± 3.5 in males. Large-scale national studies on PD prevalence from the region are currently lacking. A limited number of genetic studies with small cohorts and inconclusive results were identified. The G2019S LRRK2 mutation, the commonest mutation in PD worldwide, was found in 5.7% of patients with idiopathic PD and 17.6% of familial cases in 153 Uzbek patients. Our review highlighted systematic deficiencies in PD health care in the region including lacks of neurologists specializing in PD, delays in PD diagnosis, absence of specialized PD nurses and PD rehab services, limited access to PD medications and surgery, and the unavailability of PD infusion therapies. Overall, this article demonstrated the paucity of data on this common neurological disorder in CA and TC countries and identified a number of healthcare areas that require an urgent consideration. We conclude that well-designed large-scale epidemiological, genetic, and clinical studies are desperately needed in this region. Healthcare professionals, local and national institutions, and stakeholders must come together to address deficiencies in PD healthcare systems in CA and TC countries.

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Purpose: to estimate efficiency of pathogenetic therapy of diabetic polyneuropathy with including of benfotiaminby means of an electroneuromyography.Materials: assessment of efficiency of pathogenetic therapy of diabetic polyneuropathy with including of benfotiaminat patients with various experience of a diabetes mellitus 2 types was carried out. The research included three groups of patients with an experience of diabetes 2 type -1-3 years (1 group), 3-7 years (the 2nd group), 7-10 years (the 3rd group). The conduction research on nerves of the lower extremities by an electroneuromyography method was the main criterion of efficiency (primary final point).Results: according to ENMG-control statistically significant improvement of conduction on peripheric nerves against the background of therapy by benfotiamin within 12 weeks was shown. More faster improvement of conduction was reached in groups with a smaller experience of a diabetes mellitus (up to 7 years) and at the patients who were earlier receiving courses of pathogenetic therapy.Conclusions: Including of benfotiamin in a complex of therapy of diabetic polyneuropathy allows to achieve reliable improvement of a condition of peripheric nerves from patients with various experience of a diabetes mellitus 2 types.Keywords: diabetic polyneuropathy -benfotiamin -electroneuromyography. диаБетикалыҚ пОлиНейрОпатиЯ кезіНде патОгеНетикалыҚ терапиЯ тиімділігіНің электрОНейрОфизиОлОгиЯлыҚ көрсеткіштері кузина л.а.¹, Қайшыбаева г.с.² ¹"Смағұл Қайшыбаеватындағы неврология институты" ҒӨО, миастения және миелинсіздендіретін аурулары бөлімшесі, Алматы, Қазақстан ²"Қазақ Медициналық Үздіксіз білім беру Университеті" АҚ, неврология кафедрасы, Алматы, Қазақстан тҰжЫРЫМДАМА Зерттеу Мақсаты: Диабетикалық полинейропатия кезінде электронейромиография көмегімен бенфотиамин қосқанкездегі патогенетикалық терапияның тиімділігін бағалау.Әдістері: 2-ші үлгісіндегі қант диабетімен әртүрлі мерзім бойы ауырып келген пациенттерде диабетикалық полинейропатия кезінде бенфотиаминді қосқан кездегі патогенетикалық терапияның тиімділігі бағаланды. Зерттеуге қант диабетімен әртүрлі мерзім бойы ауырып келген пациенттердің үш тобы кірістірілді: 1-3 жыл (1 топ), 3-7 жыл (2 топ), 7-10 жыл (3 топ). Тиімділіктің негізгі көрсеткіші (бастауыш соңғы нүкте) электронейромиография әдісімен аяқтардың нервісі бойынша жүргізілген зерттеу болды .Нәтижелері: ЭНМГ-бақылаудың деректері бойынша 12 апта бойына бенфотиаминмен емдеу аясында перифериялық нерв жөніндегі өткізгіштің статистикалық елеулі жақсарғандығы көрсетілген. Анағұрлым жақсы өткізгіштік қант диабетімен науқастану деңгейі (7 жасқа дейін) және алдында патогенетикалық терапия курсын алып келген пациенттерде қол жеткізілген.Қорытынды: диабетикалық полинейропатияның кешенді терапиясына бенфотиамин енгізілуі 2 үлгідегі қант диабетімен әртүрлі мерзім бойы ауырып келген пациенттердің перифериялық нервісінің шынайы түрде жақсаруына қолжеткізуге мүмкіндік береді.Маңызды сөздер: диабетикалық полинейропатия -бенфотиамин -электронейромиография.