Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-2533Eco-Vector57910.25692/ACEN.2019.1.7ReviewsОбзорыUnknownCurrent view on phenotypic and genetic features of autosomal recessive inherited peripheral neuropathiesСовременные клинико-генетические представления об аутосомно-рецессивных наследственных периферических нейропатияхMurtazinaAysylu F.МуртазинаАйсылу Фанзировна
Russian Federation
aysylumurtazina@gmail.comShchaginaOlga A.ЩагинаОльга Анатольевна
Russian Federation
aysylumurtazina@gmail.comNikitinSergey S.НикитинСергей Сергеевич
Russian Federation
aysylumurtazina@gmail.comDadaliElena L.ДадалиЕлена Леонидовна
Russian Federation
aysylumurtazina@gmail.comPolyakovAlexander V.ПоляковАлександр Владимирович
Russian Federation
aysylumurtazina@gmail.comAssociation of Neuromuscular Disorders SpecialistsРегиональная общественная организация «Общество специалистов по нервно-мышечным болезням»Medical Center “Practical Neurology”Медицинский центр «Практическая неврология»Research Center for Medical GeneticsФГБНУ «Медико-генетический научный центр»15032019131556917032019Copyright ©; 2019, Murtazina A.F., Shchagina O.A., Nikitin S.S., Dadali E.L., Polyakov A.V.Copyright ©; 2019, Murtazina A.F., Shchagina O.A., Nikitin S.S., Dadali E.L., Polyakov A.V.2019Murtazina A.F., Shchagina O.A., Nikitin S.S., Dadali E.L., Polyakov A.V.Murtazina A.F., Shchagina O.A., Nikitin S.S., Dadali E.L., Polyakov A.V.https://creativecommons.org/licenses/by/4.0https://annaly-nevrologii.com/pathID/article/view/579

Inherited peripheral neuropathies (IPNs) are a heterogeneous group of hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies, and hereditary sensory neuropathies. IPNs can be inherited in autosomal dominant, autosomal recessive or X-linked manner. In clinical practice, isolated cases are more common, and the absence of genealogical data significantly complicates differential diagnosis. About 45% of HMSN cases lack genetic confirmation.

For a number of autosomal recessive IPNs, peculiar clinical, electrophysiological and histological features can be distinguished, however, recent publications show IPNs often to have pronounced clinical and genetic heterogeneity. That complicates the differential diagnosis of hereditary neuropathies. Prevalence of autosomal recessive pathology increases in remote populations and isolates due to a local founder effects. As the literature review showed, there are many such examples among autosomal recessive IPNs. Detection of the founder effect and major mutations in the population and development of diagnostic algorithms based on these data can significantly improve the diagnostic process.

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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