Dentatorubral-pallidoluysian atrophy in the selection of unidentified spinocebellar ataxies in Yakutia
https://doi.org/10.25789/YMJ.2018.61.04
Abstract
A clinical genealogical and molecular genetic analysis for the presence of mutations in the DRPLA gene in patients with an unidentified form of cerebellar syndrome in Yakutia was carried out.
Expansion of CAG repeats in the DRPLA gene was found in four members of the Yakut family. Clinical symptoms of patients with dentatorubralpallidoluysian atrophy (DRPLA), a rare form of autosomal dominant spinocerebellar ataxia, from the Yakut family – ataxia, extrapyramidal and psychiatric disorders – it can be attributed to a later debut with a small degree of expansion of CAG repeats.
About the Authors
M. A. Varlamova
Yakutsk Scientific Center СMP
Russian Federation
Russian Federation
Varlamova Marina Alekseevna - research associate of the laboratory of hereditary pathology of the Department of molecular genetics of the Yakut science center of complex medical problems, neurologist at the hospital
Yakutsk, the Republic of Sakha (Yakutia)
I. A. Nikolaeva
Republican Hospital №1 – National Medical Centre, Ministry of Public Health of the Sakha
Russian Federation
Russian Federation
Nikolaeva Irina Averevna - geneticist of the Medical Genetic Consultation
Yakutsk, the Republic of Sakha (Yakutia)
E. E. Gurinova
Republican Hospital №1 – National Medical Centre, Ministry of Public Health of the Sakha
Russian Federation
Russian Federation
Gurinova Elizaveta Egorovna - geneticist of the Medical Genetic Consultation
Yakutsk, the Republic of Sakha (Yakutia)
A. L. Sukhomyasova
Republican Hospital №1 – National Medical Centre, Ministry of Public Health of the Sakha
Russian Federation
Russian Federation
Sukhomyasova Aitalina Lukichna - candidate of Medical Science, geneticist of the highest category, head of the Medical Genetic Center
Yakutsk, the Republic of Sakha (Yakutia)
A. N. Nogovitsyna
North-Eastern Federal University
Russian Federation
Russian Federation
Nogovitsyna Anna Nikolaevna - candidate of Medical Sciences, research associate of the Educational and Scientific Laboratory «Genomic Medicine» Clinic of the Medical Institute
Yakutsk, the Republic of Sakha (Yakutia)
N. R. Maksimova
North-Eastern Federal University
Russian Federation
Russian Federation
Maksimova Nadezhda Romanovna - doctor of Medical Sciences, research associate of the Educational and Scientific Laboratory «Genomic Medicine» Clinic of the Medical Institute
Yakutsk, the Republic of Sakha (Yakutia)
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Review
For citations:
Varlamova M.A., Nikolaeva I.A., Gurinova E.E., Sukhomyasova A.L., Nogovitsyna A.N., Maksimova N.R. Dentatorubral-pallidoluysian atrophy in the selection of unidentified spinocebellar ataxies in Yakutia. Yakut Medical Journal. 2018;(1):17-20. https://doi.org/10.25789/YMJ.2018.61.04
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