ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2020.72.31ymj-745Research ArticleСЛУЧАЙ ИЗ ПРАКТИКИCLINICAL CASEОсобенности течения спиноцеребеллярной атаксии 17-го типа в ЯкутииFeatures of spinocerebellar ataxia type 17 in Yakutia (Clinical observation)ВарламоваМ. А.VarlamovaM. A.

Варламова Марина Алексеевна – н.с., врач невролог Центра нейродегенеративных заболеваний Клиники ЯНЦ КМП

Varlamova Marina Alekseevna - Researcher, Laboratory of Neurodegenerative Diseases, neurologist

varlamova.m@yandex.ruДавыдоваТ. К.DavydovaT. K.

Давыдова Татьяна Кимовна – к.м.н., в.н.с.- руковод. ЦНДЗ

Davydova Tatiana Kimovna - candidate of medical sciences, senior researcher - head of the laboratory

tanya.davydova.56@inbox.ruНазароваП. С.NazarovaP. S.

Назарова Пелагея Святославовна – м.н.с., врач невролог Клиники ЯНЦ КМП

Nazarova Pelageya Svyatoslavovna - junior researcher, neurologist

pelageyanazarova83@gmail.comСидороваО. Г.SidorovaO. G.

Сидорова Оксана Гаврильевна – н.с., врач генетик Клиники ЯНЦ КМП

Sidorova Oksana Gavrilievna - doctor geneticist of the Clinic of YSC KMP, - Researcher, Laboratory of Neurodegenerative Diseases

okssi66@mail.ruЗахароваВ. А.ZakharovaV. A.

Захарова Валентина Аркадьевна – зав. клинич. лаб., врач лаборантгенетик

Zakharova Valentina Arkadyevna - Head of the Clinical Laboratory, Laboratory Assistant-Geneticist

valya_zacharova@mail.ruЯкутский научный центр комплексных медицинских проблемРоссияFSBSI "Yakutsk Scientific Center for Complex Medical Problems"Russian FederationГБУ РС (Я) «Станция переливания крови»РоссияState Budgetary Institution of the Republic of Sakha (Yakutia), the Blood Transfusion StationRussian Federation20200206202504125130Copyright © Варламова М.А., Давыдова Т.К., Назарова П.С., Сидорова О.Г., Захарова В.А., 20252025Варламова М.А., Давыдова Т.К., Назарова П.С., Сидорова О.Г., Захарова В.А.Varlamova M.A., Davydova T.K., Nazarova P.S., Sidorova O.G., Zakharova V.A.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/745

Проведен литературный обзор заболевания спиноцеребеллярная атаксия 17-го типа (СЦА 17). Приведено собственное клиническое наблюдение СЦА 17 с отсутствием характерных признаков спиноцеребеллярных атаксий - обратной корреляции между степенью экспансии и возрастом манифестации симптомов болезни, а также прямой взаимосвязи между степенью экспансии повторов и тяжестью клинических проявлений, подтверждающее существование отличий в клинической картине разных типов СЦА.

A literature review of the disease spinocerebellar ataxia type 17 (SCA 17) was carried out. The clinical observation of SCA 17 was presented considering the absence of inverse correlation between a degree of expansion and age of manifestation of SCA 17 symptoms, as well as direct relationship between the degree of expansion of repeats and the severity of clinical manifestations. We also revealed differences in the clinical picture of SCA 17 in this case and SCA 1, which is widespread in Yakutia.

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The authors declare that there are no conflicts of interest present.