Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia
https://doi.org/10.17650/2222-8721-2016-6-2-47-51
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.
About the Authors
E. L. Dadali
Research Center of Medical Genetics; 1 Moskvorech’e St., Moscow, 115478, Russia
N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; 1 Ostrovityanova St., Moscow, 117997, Russia
Russian Federation
Russian Federation
A. Kh.-M. Маkаоv
Khabez Central District Hospital; 6 Bol’nichnaya St., Khabez Aul, Khabez District, Karachai-Cherkess Republic, 369400, Russia
Russian Federation
Russian Federation
V. A. Galkina
Research Center of Medical Genetics; 1 Moskvorech’e St., Moscow, 115478, Russia
Russian Federation
Russian Federation
F. A. Konovalov
OOO “Genomed”; Build. 5, 8 Podol’skoye Shosse, Moscow, 115093, Russia
Russian Federation
Russian Federation
A. V. Polyakov
Research Center of Medical Genetics; 1 Moskvorech’e St., Moscow, 115478, Russia
Russian Federation
Russian Federation
M. V. Bulakh
Research Center of Medical Genetics; 1 Moskvorech’e St., Moscow, 115478, Russia
Russian Federation
Russian Federation
R. A. Zinchеnkо
Research Center of Medical Genetics; 1 Moskvorech’e St., Moscow, 115478, Russia
N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; 1 Ostrovityanova St., Moscow, 117997, Russia
Russian Federation
Russian Federation
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Review
For citations:
Dadali E.L., Маkаоv A.Kh., Galkina V.A., Konovalov F.A., Polyakov A.V., Bulakh M.V., Zinchеnkо R.A. Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia. Neuromuscular Diseases. 2016;6(2):47-51. (In Russ.) https://doi.org/10.17650/2222-8721-2016-6-2-47-51
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