Email this article Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients
- Authors: Dadali E.L.1, Nikitin S.S.2, Kurbatov S.A.3, Murtazina A.F.2, Sharkova I.V.1, Shchagina O.A.1, Konovalov F.A.4
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Affiliations:
- Research Center of Medical Genetics
- Medical Center “Practical Neurology”, Association of Neuromuscular Disorders Specialists
- Voronezh Regional Clinical Consultative and Diagnostic Centre
- OOO “Genomed”
- Issue: Vol 7, No 3 (2017)
- Pages: 47-55
- Section: ORIGINAL REPORTS
- Published: 07.11.2017
- URL: https://nmb.abvpress.ru/jour/article/view/213
- DOI: https://doi.org/10.17650/2222-8721-2017-7-3-47-55
- ID: 213
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Abstract
Introduction. Hereditary motor and sensory neuropathies are genetically heterogeneous group of disorders characterized by a progressive muscle weakness, atrophy of hand and leg muscles often associated with deformations, and mild to moderate sensory loss. Axonal neuropathy with neuromyotonia (AR-ANM) is one of the rarest autosomal recessive hereditary neuropathies. Materials and methods. Six (6) patients (4 men, 2 women) aged 14–40 years from unrelated families with suspicion of HMSN were examined clinically, neurophysiologically and using DNA analysis. Results. Neurophysiological examination revealed motor and sensory neuropathy with neuromyotonia signs in all patients. In all cases homozygous variant of recessive mutations с.110G/C (р.Arg37Pro) in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1) has been revealed. Conclusion. There is the first description of the clinical and neurophysiological features of six patients with AR-ANM in Russia.
About the authors
E. L. Dadali
Research Center of Medical Genetics
Author for correspondence.
Email: fake@neicon.ru
Russian Federation
S. S. Nikitin
Medical Center “Practical Neurology”, Association of Neuromuscular Disorders Specialists
Email: fake@neicon.ru
Russian Federation
S. A. Kurbatov
Voronezh Regional Clinical Consultative and Diagnostic Centre
Email: fake@neicon.ru
Russian Federation
A. F. Murtazina
Medical Center “Practical Neurology”, Association of Neuromuscular Disorders Specialists
Email: fake@neicon.ru
Russian Federation
I. V. Sharkova
Research Center of Medical Genetics
Email: fake@neicon.ru
Russian Federation
O. A. Shchagina
Research Center of Medical Genetics
Email: fake@neicon.ru
Russian Federation
F. A. Konovalov
OOO “Genomed”
Email: fake@neicon.ru
Russian Federation
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