Современные клинико- генетические представления об аутосомно-рецессивных наследственных периферических нейропатиях

Aysylu F. Murtazina1, Olga A. Shchagina2, Sergey S. Nikitin1, Elena L. Dadali2, Alexander V. Polyakov2
1Региональная общественная организация «Общество специалистов по нервно-мышечным болезням», Медицинский центр «Практическая неврология», Москва, Россия; 2ФГБНУ «Медико-генетический научный центр», Москва, Россия

Аннотация


Наследственные периферические нейропатии (НПН) — группа болезней, включающая наследственные моторные сенсорные нейропатии (НМСН), наследственные моторные нейропатии и наследственные сенсорные нейропатии. НПН могут наследоваться аутосомно-доминантно, аутосомно-рецессивно или Х-сцепленно. В клинической практике часто встречаются изолированные случаи, при которых отсутствие генеалогических данных значительно затрудняет дифференциальную диагностику; 45% случаев НМСН по-прежнему остаются без генетического подтверждения.

Для ряда аутосомно-рецессивных НПН можно выделить характерные клинические, электрофизиологические, гистологические признаки. Однако последние публикации показывают, что часто НПН имеют не только выраженную клиническую, но и генетическую гетерогенность, что затрудняет их дифференциальную диагностику. Частота патологии с аутосомно-рецессивным типом наследования повышается в отдельных популяциях и изолятах, что обусловлено локальными эффектами основателя, приводящими к накоплению определенных мутаций. Таких примеров среди аутосомно-рецессивных НПН, как показал обзор литературы, немало. Обнаружение эффекта основателя и мажорных мутаций в популяции и построение алгоритмов диагностики на основе этих данных может значительно повысить эффективность и удешевить стоимость обследования.

 

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Ключевые слова

наследственные периферические нейропатии; наследственные моторные сенсорные нейропатии; наследственные моторные нейропатии; наследственные сенсорные нейропатии; аутосомно-рецессивный тип наследования

Полный текст:

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Литература

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DOI: http://dx.doi.org/10.25692/ACEN.2019.1.7