Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients
https://doi.org/10.17650/2222-8721-2017-7-3-47-55
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
Russian Federation
Russian Federation
S. S. Nikitin
Medical Center “Practical Neurology”, Association of Neuromuscular Disorders Specialists
Russian Federation
Russian Federation
S. A. Kurbatov
Voronezh Regional Clinical Consultative and Diagnostic Centre
Russian Federation
Russian Federation
A. F. Murtazina
Medical Center “Practical Neurology”, Association of Neuromuscular Disorders Specialists
Russian Federation
Russian Federation
I. V. Sharkova
Research Center of Medical Genetics
Russian Federation
Russian Federation
O. A. Shchagina
Research Center of Medical Genetics
Russian Federation
Russian Federation
F. A. Konovalov
OOO “Genomed”
Russian Federation
Russian Federation
References
1. Lance J. W., Durke D., Pollard J. Neuromyotonia in the spinal form of Charcot – Marie – Tooth disease. Clin Exp Neurol 1979;16:49–56. PMID: 550956.
2. Hahn A. F., Parkes A. W., Bolton C. F., Stewart S. A. Neuromyotonia in hereditary motor neuropathy. J Neurol Neurosurg Psychiatry. 1991;54(3):230–5. DOI: 10.1136/jnnp.54.3.230. PMID: 1851512.
3. Zimoń M., Baets J., Almeida-Souza L. et al. Loss-of-function mutations
4. in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet 2012;44(10):1080–3. DOI: 10.1038/ ng.2406. PMID: 22961002.
5. Gilmour J., Liang N., Lowenstein J. M. Isolation, cloning and characterization of a low-molecular-mass purine nucleo-side- and nucleotide-binding protein. Biochem J 1997;326(Pt 2):471–7. PMID: 9291120.
6. Weiske J., Huber O. The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity. J Biol Chem 2006;281(37):27356–66. DOI: 10.1074/jbc.M513452200. PMID: 16835243.
7. Zimoń M., Battaloğlu E., Parman Y. et al. Unraveling the genetic landscape of auto-somal recessive Charcot–Marie–Tooth neuropathies using a homozygosity mapping approach. Neurogenetics 2015;16(1):33–42. DOI: 10.1007/s10048-014-0422-0. PMID: 25231362.
8. Lassuthova P., Brozkova D. S., Krutova M. et al. Mutations in HINT1 are one
9. of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiag-nosed symptom. Neurogenetics 2015;16(1):43–54. DOI: 10.1007/s10048-014-0427-8. PMID: 25342199.
10. Peeters K., Chamova T., Tournev I., Jordanova A. Axonal neuropathy with neuromyotonia: there is a HINT. Brain 2017;140 (4):868–77. DOI: 10.1093/brain/aww301. PMID: 28007994.
11. Horga A., Cottenie E., Tomaselli P. J. et al. Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies. J Neurol 2015;262(8):1984–6. DOI: 10.1007/s00415-015-7851-z. PMID: 26194197.
12. Zhao H., Race V., Matthijs G. et al. Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. Eur J Hum Genet 2014;22(6):847–50. DOI: 10.1038/ ejhg.2013.231. PMID: 24105373.
13. Jerath N. U., Shy M. E., Grider T., Gutmann L. A case of neuromyotonia and axonalmotor neuropathy: a report of a HINT1 mutation in the United States. Muscle Nerve 2015;52(6):1110–3. DOI: 10.1002/mus.24774. PMID: 26182879.
14. Kucukali C. I., Kurtuncu M., Akcay H. I. et al. Peripheral nerve hyperexcitability syndromes. Rev Neurosci 2015;26 (2):239–51. PMID: 25719304. DOI:10.1515/revneuro-2014–0066.
15. Caetano J. S., Costa C., Baets J. et al. Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity. Pediatr Neurol 2014;50(1): 104–7. DOI: 10.1016/ j.pediatrneurol. 2013.08.028. PMID: 24131582.
16. Su T., Suzui M., Wang L. et al. Deletion of histidine triad nucleotide-binding protein 1/PKC-interacting protein in mice enhances cell growth and carcinogenesis. Proc Natl Acad Sci U S A 2003;100(13): 7824–9. DOI: 10.1073/pnas.1332160100. PMID: 12810953.
17. Seburn K. L., Morelli K. H., Jordanova A., Burgess R. W. Lack of neuropathy related phenotypes in HINT1 knockout mice. J Neuropathol Exp Neurol 2014;73(7): 693–701. DOI:10.1097/NEN. 0000000000000085. PMID: 24918641.
18. Rauchenzauner M., Frühwirth M., Hecht M. et al. A novel variant
19. in the HINT1 gene in a girl with autosomal recessive axonal neuropathy with neuromyotonia: thorough neurological examination gives the clue. Neuropediatrics 2016;47(2):119–22. DOI: 10.1055/s-0035-1570493. PMID: 26760849.
20. Boaretto F., Cacciavillani M., Mostacciuolo M. L. et al. Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia. Muscle Nerve 2015;52(4): 688–9. DOI: 10.1002/mus.24720. PMID: 26059562.
21. Chou T. F., Sham Y. Y., Wagner C. R. Impact of the C-terminal loop of histidine triad nucleotide binding protein1 (Hint1) on substrate specificity. Biochemistry 2007;46 (45):13074–9. DOI: 10.1021/bi701244h. PMID: 17939685.
Review
For citations:
Dadali E.L., Nikitin S.S., Kurbatov S.A., Murtazina A.F., Sharkova I.V., Shchagina O.A., Konovalov F.A. Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients. Neuromuscular Diseases. 2017;7(3):47-55. (In Russ.) https://doi.org/10.17650/2222-8721-2017-7-3-47-55
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