Dystonia type 28 with early onset (DYT-KMT2B): a clinical case
https://doi.org/10.17650/2073-8803-2022-17-3-79-84
Abstract
This article presents a clinical observation of a patient with a rare form of primary dystonia – type 28 dystonia associated with a heterozygous mutation in the KMT2B gene (OMIM: 617284) for the first time in the Russian literature. The disease started at the age of 6 years with unilateral dystonia of the foot, acquired the features of generalized dystonia in the 1st year from the beginning. The mutation found in proband (chr19:36229249GC>G) was not described earlier. Dystonia was insensitive to levodopa, the effect of botulinum toxin treatment was insufficient; a notable clinical result has been achieved with deep brain stimulation (DBS).
About the Authors
V. A. Bulanova
Department of Nervous Diseases with Medical Genetics and Neurosurgery, Yaroslavl State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
Vera Aleksandrovna Bulanova
5 Revolutionary St., Yaroslavl 150000
M. A. Bykanova
Department of Nervous Diseases with Medical Genetics and Neurosurgery, Yaroslavl State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
5 Revolutionary St., Yaroslavl 150000
N. А. Kuleva
Medical and Genetic Consultation, Yaroslavl Regional Perinatal Center
Russian Federation
Russian Federation
31в Tutaevskoe Shosse, Yaroslavl 150042
References
1. Bobylova M.Yu., Kakaulina V.S., Ilyina E.S. et al. Dystonia in children (a lecture). Russkij zhurnal detskoj nevrologii = Russian Journal of Child Neurology 2014;9(4):49–58. (In Russ.). DOI: 10.17650/2073-8803-2014-9-4-49-58
2. Guzeva V.I. Primary dystonia in children. Federal Guide to Child Neurology. Ed. by V.I. Guzeva. Moscow: LLC “MK”, 2016. Pp. 444–453.
3. Krasnov М.Yu., Timerbaeva S.L., Illarioshkin S.N. Genetics of hereditary forms of dystonia. Annaly clinicheskoy i eksperimentalnoy nevrologii = Annals of Clinical and Experimental Neurology 2013;7(2):55–62. (In Russ.). Available at: http://www.annalynevrologii.ru/Tom7-2-2013p.pdf
4. Abela L., Kurian M.A. KMT2B-Related Dystonia. In: GeneReviews®. Seattle: University of Washington, 1993–2020. Avaialble at: https://www.ncbi.nlm.nih.gov/books/NBK493766/
5. Albanese A., Asmus F., Bhatia K.P. et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011;18(1):5–18. DOI: 10.1111/j.1468-1331.2010.03042.x
6. Barbagiovanni G., Germain P.L., Zech M. et al. KMT2B is selectively required for neuronal transdifferentiation, and its loss exposes dystonia candidate genes. Cell Rep 2018;25(4):988–1001. DOI: 10.1016/j.celrep.2018.09.067
7. Barbagiovanni G., Gabriele M., Testa G. KMT2B and neuronal transdifferentiation: bridging basic chromatin mechanisms to disease action ability. Neurosci Insights 2020;15:1–4. DOI: 10.1177/2633105520928068
8. Burke R.E., Fahn S., Marsden C.D. et al. Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 1985;35(1):73–7. DOI: 10.1212/wnl.35.1.73
9. Carecchio M., Invernizzi F., Gonzàlez-Latapi P. et al. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Mov Disord 2019;34(10):1516–27. DOI: 10.1002/mds.27771
10. Consky E.S., Basinski A., Belle L. et al. The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS): assessment of validity and inter-rater reliability. Neurology 1990;40(Suppl 1):445.
11. Defazio G., Abbruzzese G., Livrea P., Berardelli A. Epidemiology of primary dystonia. Lancet Neurol 2004;3:673–8. DOI: 10.1016/S1474-4422(04)00907-X
12. Lohmann K., Klein C. Update on the genetics of dystonia. Curr Neurol Neurosci Rep 2017;17(3):17–26. DOI:10.1007/s11910-017-0735-0
13. Marras C., Lang A., van de Warrenburg B.P. et al. Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force. Mov Disord 2016;31(4):436–57. DOI: 10.1002/mds.26527
14. Meyer E., Carss K.J., Rankin J. et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet 2017;49(2):223–37. DOI: 10.1038/ng.3740
15. Kyu M.J., Kim A.R., Ahn J.H. et al. Successful pallidal stimulation in a patient with KMT2B-related dystonia. J Mov Disord 2020;13(2):154–8. DOI: 10.14802/jmd.19087
16. Shen E., Shulha H., Weng Z., Akbarian S. Regulation of histone H3K4 methylation in brain development and disease. Philos Trans R Soc Lond Ser B Biol Sci 2014;369(1652). DOI: 10.1098/rstb.2013.0514
17. Wider C., Melquist S., Hauf M. et al. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. Neurology 2008;70(16 Pt 2):1377–83. DOI: 10.1212/01.wnl.0000275527.35752.c5
18. Zech M., Boesch S., Maier E.M. et al. Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2b, results in early-onset generalized dystonia. Am J Hum Genet 2016;99(6):1377–87. DOI: 10.1016/j.ajhg.2016.10.010
19. Zech M., Lam D., Winkelmann J. Update on KMT2B-related dystonia. Curr Neurol Neurosci Rep 2019;19(11):92. DOI: 10.1007/s11910-019-1007-y
Review
For citations:
Bulanova V.A., Bykanova M.A., Kuleva N.А. Dystonia type 28 with early onset (DYT-KMT2B): a clinical case. Russian Journal of Child Neurology. 2022;17(3):79-84. (In Russ.) https://doi.org/10.17650/2073-8803-2022-17-3-79-84
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