Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients
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...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2017-11-01
|
| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/213 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849401151805456384 |
|---|---|
| author | E. L. Dadali S. S. Nikitin S. A. Kurbatov A. F. Murtazina I. V. Sharkova O. A. Shchagina F. A. Konovalov |
| author_facet | E. L. Dadali S. S. Nikitin S. A. Kurbatov A. F. Murtazina I. V. Sharkova O. A. Shchagina F. A. Konovalov |
| author_sort | E. L. Dadali |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-b27ffc0c525e43ec8645e495ae9e4dda |
| institution | Kabale University |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2017-11-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-b27ffc0c525e43ec8645e495ae9e4dda2025-08-20T03:37:50ZrusABV-pressНервно-мышечные болезни2222-87212413-04432017-11-0173475510.17650/2222-8721-2017-7-3-47-55183Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patientsE. L. Dadali0S. S. Nikitin1S. A. Kurbatov2A. F. Murtazina3I. V. Sharkova4O. A. Shchagina5F. A. Konovalov6Research Center of Medical GeneticsMedical Center “Practical Neurology”, Association of Neuromuscular Disorders SpecialistsVoronezh Regional Clinical Consultative and Diagnostic CentreMedical Center “Practical Neurology”, Association of Neuromuscular Disorders SpecialistsResearch Center of Medical GeneticsResearch Center of Medical GeneticsOOO “Genomed”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.https://nmb.abvpress.ru/jour/article/view/213distal hereditary motor neuropathyaxonal neuropathyneuromyotoniahint1 |
| spellingShingle | E. L. Dadali S. S. Nikitin S. A. Kurbatov A. F. Murtazina I. V. Sharkova O. A. Shchagina F. A. Konovalov Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients Нервно-мышечные болезни distal hereditary motor neuropathy axonal neuropathy neuromyotonia hint1 |
| title | Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients |
| title_full | Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients |
| title_fullStr | Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients |
| title_full_unstemmed | Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients |
| title_short | Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients |
| title_sort | clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in russian patients |
| topic | distal hereditary motor neuropathy axonal neuropathy neuromyotonia hint1 |
| url | https://nmb.abvpress.ru/jour/article/view/213 |
| work_keys_str_mv | AT eldadali clinicalandgeneticcharacteristicsofautosomalrecessiveaxonalneuropathywithneuromyotoniainrussianpatients AT ssnikitin clinicalandgeneticcharacteristicsofautosomalrecessiveaxonalneuropathywithneuromyotoniainrussianpatients AT sakurbatov clinicalandgeneticcharacteristicsofautosomalrecessiveaxonalneuropathywithneuromyotoniainrussianpatients AT afmurtazina clinicalandgeneticcharacteristicsofautosomalrecessiveaxonalneuropathywithneuromyotoniainrussianpatients AT ivsharkova clinicalandgeneticcharacteristicsofautosomalrecessiveaxonalneuropathywithneuromyotoniainrussianpatients AT oashchagina clinicalandgeneticcharacteristicsofautosomalrecessiveaxonalneuropathywithneuromyotoniainrussianpatients AT fakonovalov clinicalandgeneticcharacteristicsofautosomalrecessiveaxonalneuropathywithneuromyotoniainrussianpatients |