Генетика наследственных форм дистонии

M. Yu. Krasnov1, S. L. Timerbaeva1, S. N. Illarioshkin1
1ФГБУ «Научный центр неврологии» РАМН (Москва), Россия

Аннотация


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.

Ключевые слова

дистония; наследственные формы; генетика; фенотипы; диагноз

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