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Rudenskaya G.E.

Research Centre for Medical Genetics

Bostanova F.M.

Research Centre for Medical Genetics

Dadaly E.L.

Research Centre for Medical Genetics

Orlova M.D.

Research Centre for Medical Genetics

Cherevatova T.B.

Research Centre for Medical Genetics

Chukhrova A.L.

Research Centre for Medical Genetics

Efremova A.V.

Research Centre for Medical Genetics

Ryzhkova O.P.

Research Centre for Medical Genetics

Autosomal dominant dyskinesia associated with the ADCY5 gene

Authors:

Rudenskaya G.E., Bostanova F.M., Dadaly E.L., Orlova M.D., Cherevatova T.B., Chukhrova A.L., Efremova A.V., Ryzhkova O.P.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2026;126(2): 144‑152

DOI: 10.17116/jnevro2026126021144

Read: 510 times

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Table of contents

AUTOSOMAL DOMINANT DYSKINESIA ASSOCIATED WITH THE ADCY5 GENE
AUTOSOMAL DOMINANT DYSKINESIA ASSOCIATED WITH THE ADCY5 GENE

To cite this article:

Rudenskaya GE, Bostanova FM, Dadaly EL, et al. Autosomal dominant dyskinesia associated with the ADCY5 gene. S.S. Korsakov Journal of Neurology and Psychiatry. 2026;126(2):144‑152. (In Russ.)
https://doi.org/10.17116/jnevro2026126021144

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Abstract:

Autosomal dominant dyskinesia caused by heterozygous pathogenic variants in the ADCY5 gene, which encodes adenylate cyclase-5, is a rare neurodegenerative disease with a typical early onset and is primarily associated with hyperkinesias, mostly complex ones. Nonfamilial cases caused by de novo gene variants predominate. Caffeine in the form of coffee has become a common treatment. Three cases have been described: a familial case in a 9-year-old boy and a 54-year-old mother; a nonfamilial case in a 4-year-old girl with a frequent ADCY5 variant, p.Arg418Gln; and a nonfamilial case in an 8-year-old boy with a known variant, p.Arg726Trp. In the familial case, the mother’s disease was much less severe than that of the son and did not require treatment; coffee was effective in the son.

Keywords:

autosomal dominant dyskinesia
ADCY5 gene
pathogenic variants
clinical diversity
caffeine

Authors:

Rudenskaya G.E.

Research Centre for Medical Genetics

Bostanova F.M.

Research Centre for Medical Genetics

Dadaly E.L.

Research Centre for Medical Genetics

Orlova M.D.

Research Centre for Medical Genetics

Cherevatova T.B.

Research Centre for Medical Genetics

Chukhrova A.L.

Research Centre for Medical Genetics

Efremova A.V.

Research Centre for Medical Genetics

Ryzhkova O.P.

Research Centre for Medical Genetics

Received:

07.09.2025

Accepted:

30.10.2025

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