Генетика наследственных форм дистонии

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Дистония – одно из наиболее распространенных двигательных расстройств, имеющих большое медицинское и социально-экономическое значение. Генетика играет значительную роль в развитии различных и в первую очередь первичных форм дистонии. На сегодняшний день спектр наследственных дистонических синдромов включает более двадцати самостоятельных клинико-генетических вариантов, что характеризует дистонию
как чрезвычайно гетерогенную нозологическую группу, требующую дифференцированных подходов к диагностике и лечению. Представлен подробный анализ литературных данных о наследственных формах дистонии, включая клиническую картину, молекулярно-генетические основы развития, корреляции фенотип–генотип, принципы ДНК-диагностики и медико-генетического консультирования отягощенных семей.

Об авторах

Максим Юрьевич Краснов

ФГБНУ «Научный центр неврологии»

Автор, ответственный за переписку.
Email: merritt.kraut@gmail.com
Россия, Москва

София Л. Тимербаева

ФГБНУ «Научный центр неврологии»

Email: merritt.kraut@gmail.com
Россия, Москва

Сергей Николаевич Иллариошкин

ФГБНУ «Научный центр неврологии»

Email: merritt.kraut@gmail.com
ORCID iD: 0000-0002-2704-6282

д.м.н., проф., член-корр. РАН, зам. директора по научной работе, рук. отдела исследований мозга

Россия, Москва

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