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<p>Autosomal dominant dyskinesia caused by heterozygous pathogenic variants of the adenylate cyclase-5 (<i>ADCY5</i>) gene is a rare neurodegenerative disease typically with early onset and hyperkinesia, often complex, as the dominant clinical features. Non-familial cases caused by de novo gene variants predominate. Caffeine, in the form of coffee, has become widely used in treatment. Three cases of the disease are described: a familial case of a nine-year-old boy and a 54-year-old mother, a non-familial case of a four-yearold girl with common <i>ADCY5</i> variant p.Arg418Gln, and a non-familial case of an eight-year-old boy with known variant p.Arg726Trp. In the familial case, the mother’s disease was much milder than her son’s and did not require treatment; the son showed an effect of coffee.</p>

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Autosomal Dominant Dyskinesia Associated with the ADCY5 Gene

  • 期刊论文

  • 发表日期：

    2026年8月3日

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

摘要

Autosomal dominant dyskinesia caused by heterozygous pathogenic variants of the adenylate cyclase-5 (ADCY5) gene is a rare neurodegenerative disease typically with early onset and hyperkinesia, often complex, as the dominant clinical features. Non-familial cases caused by de novo gene variants predominate. Caffeine, in the form of coffee, has become widely used in treatment. Three cases of the disease are described: a familial case of a nine-year-old boy and a 54-year-old mother, a non-familial case of a four-yearold girl with common ADCY5 variant p.Arg418Gln, and a non-familial case of an eight-year-old boy with known variant p.Arg726Trp. In the familial case, the mother’s disease was much milder than her son’s and did not require treatment; the son showed an effect of coffee.