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Аутосомно-доминантная дискинезия, связанная с геном ADCY5

Аутосомно-доминантная дискинезия, связанная с геном ADCY5

Авторы:
Галина Евгеньевна Руденская,
Фатима Мунияминовна Бостанова,
Елена Леонидовна Дадали,
Мария Дмитриевна Орлова,
Татьяна Борисовна Череватова,
Алёна Львовна Чухрова,
Анна Викторовна Ефремова,
Оксана Петровна Рыжкова

Журнал: Журнал неврологии и психиатрии им. С.С. Корсакова. 2026;126(2):144-152.

DOI: 10.17116/jnevro2026126021144

Прочитано: 1218 раз

Резюме

Аутосомно-доминантная дискинезия, вызванная гетерозиготными патогенными вариантами гена аденилатциклазы-5 (ADCY5), — редкое нейродегенеративное заболевание с типичным ранним началом и ведущими в клинической картине гиперкинезами, чаще сложными. Преобладают несемейные случаи, вызванные вариантами гена de novo. В лечении получил распространение кофеин в виде кофе. Описаны три случая болезни: семейный — у мальчика 9 лет и матери 54 лет и несемейный — у девочки 4 лет с частым ADCY5-вариантом p.Arg418Gln, несемейный — у мальчика 8 лет с известным вариантом p.Arg726Trp. В семейном случае болезнь матери протекала гораздо легче, чем у сына, и не требовала лечения; у сына отмечен эффект кофе.

Ключевые слова

  • аутосомно-доминантная дискинезия
  • ген ADCY5
  • патогенные варианты
  • клиническое разнообразие
  • кофеин

Дата поступления: 07.09.2025

Дата принятия в печать: 30.10.2025

Дата публикации: 05.03.2026

Литература / References
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