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

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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.

Об авторах

Айсылу Фанзировна Муртазина

Региональная общественная организация «Общество специалистов по нервно-мышечным болезням»; Медицинский центр «Практическая неврология»

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

Ольга Анатольевна Щагина

ФГБНУ «Медико-генетический научный центр»

Email: aysylumurtazina@gmail.com
Россия, Москва

Сергей Сергеевич Никитин

Региональная общественная организация «Общество специалистов по нервно-мышечным болезням»;
Медицинский центр «Практическая неврология»

Email: aysylumurtazina@gmail.com
Россия, Москва

Елена Леонидовна Дадали

ФГБНУ «Медико-генетический научный центр»

Email: aysylumurtazina@gmail.com
Россия, Москва

Александр Владимирович Поляков

ФГБНУ «Медико-генетический научный центр»

Email: aysylumurtazina@gmail.com
Россия, Москва

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