Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-2533Eco-Vector65410.25692/ACEN.2020.2.3Original articlesОригинальные статьиUnknownClinical and Epidemiological Aspects of Huntington Disease in the Republic of TatarstanКлинико-эпидемиологические аспекты болезни Гентингтона в Республике ТатарстанMunasipovaSabina E.МунасиповаСабина Эльдаровна
Russian Federation
sabina.munasipova@mail.ruZalyalovaZuleykha A.ЗаляловаЗулейха Абдуллазяновна
Russian Federation
sabina.munasipova@mail.ruKazan State Medical UniversityФГБОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииRepublican Center for Extrapyramidal Pathology and Botulinum TherapyРеспубликанский центр экстрапирамидной патологии и ботулинотерапии24062020142232811062020Copyright ©; 2020, Munasipova S.E., Zalyalova Z.A.Copyright ©; 2020, Munasipova S.E., Zalyalova Z.A.2020Munasipova S.E., Zalyalova Z.A.Munasipova S.E., Zalyalova Z.A.https://creativecommons.org/licenses/by/4.0https://annaly-nevrologii.com/pathID/article/view/654

his study aimed to evaluate the epidemiological features ofHuntington disease (HD), based on data from the Centre for Extrapyramidal Pathology and Botulinum Toxin Therapy of theRepublic ofTatarstan.

Materials and methods. We examined 44 patients with HD (mean age 47.3 ± 12.5 years). The study design included determining and comparing clinical data, genealogical and epidemiological data, and laboratory parameters.

Results. The highest prevalence of HD was found in the north-western and north-eastern parts of theRepublic ofTatarstan being 1.1 per 100,000 people, regardless of nationality. The phenomenon of anticipation in HD inheritance was observed, considering the instability and increasing expansion in subsequent generations along the paternal line. Psychiatric manifestations (apathy, irritability, anxiety, depression) were present in 61.4% of cases at disease onset. One male patient was presumably diagnosed with the Westphal variant. Manifest carriers of a CAG-expansion in the range of 36–39 repeats in the mutant gene were found in 15.9% of cases and were predominantly represented by females (85.7%).

Цель исследования — оценить эпидемиологические особенности болезни Гентингтона (БГ) по данным Центра экстрапирамидной патологии и ботулинотерапии Республики Татарстан.

Материалы и методы. Обследовано 44 пациента с БГ (средний возраст — 47,3 ± 12,5 года). Дизайн исследования включал определение и сравнение клинических данных, генеалогических и эпидемиологических сведений, лабораторных показателей.

Результаты. Наиболее высокая распространенность БГ в северо-западной и северо-восточной частях Республики Татарстан составляет 1,1 на 100 тыс. населения независимо от национальной принадлежности. Выявлен феномен антиципации при наследовании БГ с учетом нестабильности и нарастания степени экспансий в последующих поколениях по отцовской линии. Психиатрические проявления (апатия, раздражительность, беспокойство, депрессия) преобладали в 61,4% случаев в дебюте заболевания. У 1 пациента мужского пола предположительно установлен вариант Вестфаля. Пациенты с длиной CAG-триплетов мутантного гена в диапазоне 36–39 с манифестными клиническими проявлениями встречались в 15,9% случаев с преобладанием лиц женского пола (85,7%).

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