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Abstract
The clinical and genetic features of hereditary motor and sensory neuropathy (HMSN; Charcot–Marie–Tooth disease, CMT) caused by newly identified missense mutation s.65G>T (p.Pro22His) in NEFL gene located on the chromosome 8р21.2 are described. The disease was diagnosed in a large family from Ust-Dzhegutinsky district of the Karachay-Cherkess Republic with the segregation of the disease in four generations. The prevalence of the HMSN in that district was found to be 1:4340 persons, including 1:3376 among Karachays. The clinical picture of the disease was characterized by onset at the age of 11–14 years, weakness in foot muscles and steppage gait. The specific features in the majority of patients were the absence of major sensory disturbances, as well as long-term preserved distal arm muscles. Nerve conduction velocity in the median nerve varied from 30 to 42 m/s, which corresponds to values in patients with CMT2E, previously described.
Highlights
В статье описаны клинико-генетические характеристики наследственной моторно-сенсорной нейропатии (НМСН, болезнь Шарко–Мари–Тута, БШМТ), обусловленной вновь выявленной миссенс-мутацией с.65G>T (p.Pro22His) в гене neurofilament light chain gene (NEFL) на хромосоме 8р21.2, у больных из семьи, проживающей в Усть-Джегутинском районе Карачаево-Черкесской Республики, с сегрегацией заболевания в 4 поколениях
The clinical and genetic features of hereditary motor and sensory neuropathy (HMSN; Charcot–Marie–Tooth disease, CMT) caused by newly identified missense mutation s.65G>T (p.Pro22His) in NEFL gene located on the chromosome 8р21.2 are described
Однако анализ клинико-генетической корреляции, проведенный рядом авторов у больных, в том числе у пораженных членов одной семьи с наличием миссенс-мутаций в гене neurofilament light chain gene (NEFL), выявил различия в показателях скорости распространения возбуждения (СРВ) по срединному нерву, что позволило высказать предположение о том, что этот вариант следовало бы отнести к промежуточному
Summary
В статье описаны клинико-генетические характеристики наследственной моторно-сенсорной нейропатии (НМСН, болезнь Шарко–Мари–Тута, БШМТ), обусловленной вновь выявленной миссенс-мутацией с.65G>T (p.Pro22His) в гене NEFL на хромосоме 8р21.2, у больных из семьи, проживающей в Усть-Джегутинском районе Карачаево-Черкесской Республики, с сегрегацией заболевания в 4 поколениях. The clinical and genetic features of hereditary motor and sensory neuropathy (HMSN; Charcot–Marie–Tooth disease, CMT) caused by newly identified missense mutation s.65G>T (p.Pro22His) in NEFL gene located on the chromosome 8р21.2 are described. Описаны семьи, в которых отмечена диссоциация показателей СРВ по срединному нерву от 25 до 45 м/с, что дало основание выделять промежуточный вариант НМСН.
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