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Nikitina M.A.

Siberian State Medical University

Bragina E.Yu.

Research Institute of Medical Genetics of the Tomsk NRMC

Nazarenko M.S.

Siberian State Medical University;
Research Institute of Medical Genetics of the Tomsk NRMC

Alifirova V.M.

Siberian State Medical University

The role of alleles with an intermediate number of trinucleotide repeats in Parkinson’s disease and other neurodegenerative disorders

Authors:

Nikitina M.A., Bragina E.Yu., Nazarenko M.S., Alifirova V.M.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2022;122(7): 42‑50

DOI: 10.17116/jnevro202212207142

Read: 3325 times

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Table of contents

THE ROLE OF ALLELES WITH AN INTERMEDIATE NUMBER OF TRINUCLEOTIDE REPEATS IN PARKINSON’S DISEASE AND OTHER NEURODEGENERATIVE DISORDERS
THE ROLE OF ALLELES WITH AN INTERMEDIATE NUMBER OF TRINUCLEOTIDE REPEATS IN PARKINSON’S DISEASE AND OTHER NEURODEGENERATIVE DISORDERS

To cite this article:

Nikitina MA, Bragina EYu, Nazarenko MS, Alifirova VM. The role of alleles with an intermediate number of trinucleotide repeats in Parkinson’s disease and other neurodegenerative disorders. S.S. Korsakov Journal of Neurology and Psychiatry. 2022;122(7):42‑50. (In Russ.)
https://doi.org/10.17116/jnevro202212207142

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
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Abstract:

Genetic factors underlie the pathological processes that cause the manifestation of a wide range of neurodegenerative diseases. The pathological expansion of unstable trinucleotide repeats is known to lead monogenic neurological diseases such as Huntington’s disease, Kennedy’s disease, spinocerebellar ataxia, and others. However, the latest data suggests individuals with intermediate allele (IA) repeat length have a risk of developing common neurological phenotype, for example, Parkinson’s disease, Alzheimer’s disease. In this study, we review the current knowledge on intermediate alleles of HTT gene for pathogenesis and clinical features of neurodegenerative diseases, with the focus on Parkinson’s disease. Early diagnosis of neurodegenerative disease and genetic counselling of the family can be improved via the implementation of specific management strategies of IA carriers by team of highly experienced professionals in the fields of neurology and genetics.

Keywords:

neurodegenerative diseases
Parkinson’s disease
movement disorders
Huntington’s disease
expansion of CAG repeats
huntingtin
HTT gene

Authors:

Nikitina M.A.

Siberian State Medical University

Bragina E.Yu.

Research Institute of Medical Genetics of the Tomsk NRMC

Nazarenko M.S.

Siberian State Medical University;
Research Institute of Medical Genetics of the Tomsk NRMC

Alifirova V.M.

Siberian State Medical University

Received:

12.01.2022

Accepted:

06.04.2022

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