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  •  Etiological and pathogenetic mechanisms of forming muscle dystonias

    Редактор | 2023, Literature reviews, Practical medicine part 21 №3. 2023 | 19 июня, 2023

    S.E. MUNASIPOVA1, 2, Z.A. ZALYALOVA1, 2, A.A. TEREKHOVA1

     1Kazan State Medical University, Kazan

    2Center for Movement Disorders and Botulinum Therapy of the Republic of Tatarstan, Kazan

     Contact details:

    Munasipova S.E. — PhD (medicine), Assistant Lecturer of the Department of Neurology and Rehabilitation, neurologist

    Address: 49 Butlerov St., Kazan, Russian Federation, 420012, tel.: +7-960-045-53-01, e-mail: sabina.munasipova@mail.ru

    This article discusses the issues of muscular dystonia pathogenesis that are relevant to modern medicine, as well as the possibility of using the pathogenetic concept as a substrate to supplement the classification criteria. Reviewing the international publications on etiopathophysiology, genetics and classification, the article summarizes the main mechanisms for the occurrence of a pathological process at different levels of the nervous system. Despite the frequent clinical similarity of the symptoms of various forms of muscular dystonia, these symptoms may be the result of dysfunction of completely different genetic and neurophysiological mechanisms. The article focuses on the importance of studying the etiological and pathogenetic mechanisms and their further implementation in clinical practice in order to develop more accurate treatment techniques aimed at eliminating the specific causes of the development of specific forms of muscular dystonia.

    Key words: muscular dystonia, etiology, pathogenesis, classification, genetics of dystonia.

    REFERENCES

    1. Zalyalova Z.A. Modern classifications of muscular dystonia, treatment strategy. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2013, vol. 113, no. 3, pp. 85–89 (in Russ.).
    2. Zalyalova Z.A. Benign essential blepharospasm: epidemiology, clinical manifestations, pathophysiology, botulinum therapy. Nevrologiya, neyropsikhiatriya, psikhosomatika, 2021, vol. 13, no. 1, pp. 119–125 (in Russ.). DOI: 10.14412/2074-2711-2021-1-119-125
    3. Ozelius L.J., Lubarr N., Bressman S.B. Milestones in dystonia. Mov Disord, 2011, vol. 26 (6), pp. 1106–1126. DOI: 10.1002/mds.23775
    4. Rilstone J.J. et al. Brain dopamine-serotonin vesicular transport disease and its treatment. N Engl J Med., 2013, vol. 368, pp. 543–550. DOI: 10.1056/NEJMoa1207281
    5. Ozelius L.J., Lubarr N., Bressman S.B. Milestones in dystonia, 2011, vol. 26 (6), pp. 1106–1126. DOI: 10.1002/mds.23775
    6. Singer H.S., Mink J.W., Gilbert D.L., Jankovic J. Movement Disorders in Childhood. Philadelphia, 2010. 288 p.
    7. Rosencrantz R., Schilsky M. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin Liver Dis., 2011, vol. 31, pp. 245–259. DOI: 10.1055/s-0031-1286056
    8. Muller U. The monogenic primary dystonias. Brain, 2009, vol. 132, pp. 2005–2025. DOI: 10.1093/brain/awp172
    9. Ozelius L.J., Lubarr N., Bressman S.B. Milestones in dystonia. Mov Disord, 2011, vol. 26 (6), pp. 1106–1126. DOI: 10.1002/mds.23775
    10. Lohmann K., Klein C. Update on the Genetics of Dystonia. Curr Neurol Neurosci Rep, 2017, vol. 17 (3), p. 26. DOI: 10.1007/s11910-017-0735-0
    11. 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, vol. 31 (4), pp. 436–457. DOI: 10.1002/mds.26527
    12. Albanese A., Bhatia K., Bressman S.B. et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord, 2013, vol. 28 (7), pp. 863–873. DOI: 10.1002/mds.25475
    13. Simonyan K., Berman B.D., Herscovitch P., Hallett M. Abnormal striatal dopaminergic neurotransmission during rest and task production in spasmodic dysphonia. J Neurosci, 2013, vol. 33 (37), pp. 14705–14714. DOI: 10.1523/JNEUROSCI.0407-13.2013
    14. Jinnah H.A., Sun Y.V. Dystonia genes and their biological pathways. Neurobiol Dis, 2019, vol. 129, pp. 159–168. DOI: 10.1016/j.nbd.2019.05.014
    15. Charlesworth G., Plagnol V., Holmström K.M. et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet, 2012, vol. 91 (6), pp. 1041–1050. DOI: 10.1016/j.ajhg.2012.10.024
    16. Reichmann H., Naumann M., Hauck S., Janetzky B. Respiratory chain and mitochondrial deoxyribonucleic acid in blood cells from patients with focal and generalized dystonia. Mov Disord, 1994, vol. 9 (6), pp. 597–600. DOI: 10.1002/mds.870090603
    17. Pearson T.S. et al. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep, 2013, vol. 13, p. 342. DOI: 10.1007/s11910-013-0342-7.
    18. Zhou B., Westaway S.K., Levinson B. et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet, 2001, vol. 28 (4), pp. 345–349. DOI: 10.1038/ng572
    19. Rouault T.A., Cooperman S. Brain iron metabolism. Semin Pediatr Neurol, 2006, vol. 13 (3), pp. 142–148. DOI: 10.1016/j.spen.2006.08.002
    20. Miyajima H., Takahashi Y., Kono S. Aceruloplasminemia, an inherited disorder of iron metabolism. Biometals, 2003, vol. 16 (1), pp. 205–213. DOI: 10.1023/a:1020775101654
    21. McNeill A., Birchall D., Hayflick S.J. et al. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology, 2008, vol. 70 (18), pp. 1614–1619. Doi: 10.1212/01.wnl.0000310985.40011.d6
    22. Groen J.L., Andrade A., Ritz K. et al. CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum Mol Genet, 2015, vol. 24 (4), pp. 987–993. DOI: 10.1093/hmg/ddu513
    23. Mencacci N.E., Rubio-Agusti I., Zdebik A. et al. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet, 2015, vol. 96 (6), pp. 938–947. DOI: 10.1016/j.ajhg.2015.04.008
    24. Zoccolella S., Martino D., Defazio G. et al. Hyperhomocysteinemia in movement disorders: Current evidence and hypotheses. Curr Vasc Pharmacol, 2006, vol. 4 (3), pp. 237–243. DOI: 10.2174/157016106777698414
    25. Jinnah H.A., Neychev V., Hess E.J. The Anatomical Basis for Dystonia: The Motor Network Model. Tremor Other Hyperkinet Mov (NY), 2017, vol. 7, p. 506. DOI: 10.7916/D8V69X3S
    26. Tewari A., Fremont R., Khodakhah K. It’s not just the basal ganglia: Cerebellum as a target for dystonia therapeutics. Movement disorders: official journal of the Movement Disorder Society, 2017, vol. 32 (11), pp. 1537–1545, available at: https://pubmed.ncbi.nlm.nih.gov/28843013/
    27. Li Z., Prudente C.N., Stilla R. et al. Alterations of resting-state fMRI measurements in individuals with cervical dystonia. Hum Brain Mapp, 2017, vol. 38 (8), pp. 4098–4108. DOI: 10.1002/hbm.23651
    28. Gruber D., Kühn A.A., Schoenecker T. et al. Pallidal and thalamic deep brain stimulation in myoclonus-dystonia. Mov Disord, 2010, vol. 25 (11), pp. 1733–1743. DOI: 10.1002/mds.23312
    29. Neychev V.K., Fan X., Mitev V.I. et al. The basal ganglia and cerebellum interact in the expression of dystonic movement. Brain, 2008, vol. 131 (9), pp. 2499–2509. DOI: 10.1093/brain/awn168
    30. Rossi M., Balint B., Millar Vernetti P. et al. Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options. Mov Disord Clin Pract, 2018, vol. 5 (4), pp. 373–382. DOI: 10.1002/mdc3.12635
    31. Cohen L.G., Hallett M. Hand cramps: clinical features and electromyographic patterns in a focal dystonia. Neurology, 1988, vol. 38, pp. 1005–1012. DOI: 10.1212/wnl.38.7.1005
    32. Lozeron P., Poujois A., Richard A. et al. Contribution of TMS and rTMS in the Understanding of the Pathophysiology and in the Treatment of Dystonia. Front Neural Circuits, 2016, vol. 10, p. 90. DOI: 10.3389/fncir.2016.00090
    33. Patel N., Jankovic J., Hallett M. Sensory aspects of movement disorders. Lancet Neurol, 2014, vol. 13 (1), pp. 100–112. DOI: 10.1016/S1474-4422(13)70213-8
    34. Avanzino L., Tinazzi M., Ionta S., Fiorio M. Sensory-motor integration in focal dystonia. Neuropsychologia, 2015, vol. 79 (B), pp. 288–300. DOI: 10.1016/j.neuropsychologia.2015.07.008
    35. Khosravani S., Buchanan J., Johnson M.D., Konczak J. Effect of Neck Botulinum Neurotoxin Injection on Proprioception and Somatosensory-Motor Cortical Processing in Cervical Dystonia. Neurorehabil Neural Repair, 2020, vol. 34 (4), pp. 309–320. DOI: 10.1177/1545968320905799
    36. Kroneberg D., Plettig P., Schneider G.H., Kühn A.A. Motor Cortical Plasticity Relates to Symptom Severity and Clinical Benefit from Deep Brain Stimulation in Cervical Dystonia. Neuromodulation, 2018, vol. 21 (8), pp. 735–740. DOI: 10.1111/ner.12690
    37. J Neural Transm (Vienna), 2021, vol. 128 (4), pp. 395–404. Published online 2021 Feb 19. DOI: 10.1007/s00702-021-02314-2
    38. Klein C., Lohmann K., Marras C., Münchau A. Hereditary Dystonia Overview. In: Gene Reviews. University of Washington, Seattle, 2018.
    39. Tomić A., Agosta F., Sarasso E. et al. Brain structural changes in focal dystonia-what about task specificity? A multimodal MRI study. Mov Disord, 2020. DOI: 10.1002/mds.28304
    40. van der Meer J., Beukers R., van der Salm S. et al. White matter abnormalities in gene-positive myoclonus-dystonia. Mov Disord, 2012, vol. 27, pp. 1666–1672. DOI: 10.1002/MDS.25128
    41. Horisawa S., Taira T., Goto S., Ochiai T., Nakajima T. Long-term improvement of musician’s dystonia after stereotactic ventro-oral thalamotomy. AnnNeurol, 2013, vol. 74 (5), pp. 648–654. DOI: 10.1002/ana.2
    42. Rittiner J.E. et al. Functional genomic analyses of Mendelian and sporadic disease identify impaired eIF2alpha signaling as a generalizable mechanism 3877 for dystonia. Neuron, 2016, vol. 92, pp. 1238–1251.
    43. Gonzalez-Alegre P. Advances in molecular and cell biology of dystonia: Focus on torsin A. Neurobiol Dis, 2019, vol. 127, pp. 233–241. DOI: 10.1016/j.nbd.2019.03.007
    44. Bragg D.C. et al. Molecular pathways in dystonia. Neurobiol Dis, 2011, vol. 42, pp. 136–147. DOI: 10.1016/j.nbd.2010.11.015
    45. LeDoux M.S. et al. Emerging molecular pathways for dystonia. Mov Disord, 2013, vol. 15, pp. 968–981. DOI: 10.1002/mds.25547
    46. Nibbeling E.A. et al. Using the shared genetics of dystonia and ataxia to unravel the Weisheit C.E. et al. 2018. Inherited dystonias: clinical features and molecular pathways. Handb Clin Neurol. 147, 241-254eir pathogenesis. Neurosci Biobehav Rev, 2017, vol. 75, pp. 22–39. DOI: 10.1016/j.neubiorev.2017.01.033
    47. Weisheit C.E. et al. Inherited dystonias: clinical features and molecular pathways. Handb Clin Neurol, 2018, vol. 147, pp. 241–254. doi: 10.1016/B978-0-444-63233-3.00016-6
    48. Balint B. et al. Dystonia. Nat Rev Dis Primers, 2018, vol. 4, p. 25. DOI: 10.1038/s41572-018-0023-6
    49. Thompson V.B. et al. Convergent mechanisms in etiologically-diverse dystonias. Expert Opin Ther Targets, 2011, vol. 15, pp. 1387–1403. DOI: 10.1517/14728222.2011.641533
    50. Prudente C.N. et al. Dystonia as a network disorder: what is the role of the cerebellum? Neuroscience, 2014, vol. 260, pp. 23–35. DOI: 10.1016/j.neuroscience.2013.11.062
    51. Bandmann O. et al. Wilson’s disease and other neurological copper disorders. Lancet Neurol, 2015, vol. 14, pp. 103–113. DOI: 10.1016/S1474-4422(14)70190-5
    52. Riley L.G. et al. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. J Inherit Metab Dis, 2017, vol. 40, pp. 261–269. DOI: 10.1007/s10545-016-0010-6
    53. Tuschl K. et al. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. Am J Hum Genet, 2012, vol. 90, pp. 457-466. DOI: 10.1016/j.ajhg.2012.01.018
    54. Di Meo I., Tiranti, V. Classification and molecular pathogenesis of NBIA syndromes. Eur J Paediatr Neurol, 2018, vol. 22, pp. 272–284. DOI: 10.1016/j.ejpn.2018.01.008
    55. Tello C. et al. On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation. Clin Genet, 2018, vol. 93, pp. 731–740. DOI: 10.1111/cge.13057
    56. Charlesworth G. et al. Mutations in HPCA cause autosomal-recessive primary isolated dystonia. Am J Hum Genet, 2015, vol. 96, pp. 657–665. DOI: 10.1016/j.ajhg.2015.02.007
    57. Tian J. et al. Whole-exome sequencing for variant discovery in blepharospasm. Mol Genet Genomic Med. inpress., 2018. DOI: 10.1002/mgg3.411
    58. Wassenberg T. et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis, 2017, vol. 12 (1), p. 12. DOI: 10.1186/s13023-016-0522-z
    59. Ozelius L.J., Hewett J.W., Page C.E. et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet, 1997, vol. 17, pp. 40–48. DOI: 10.1038/ng0997-40
    60. Segawa M., Nomura Y., Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol, 2003, vol. 54 (6), pp. S32–45. DOI: 10.1002/ana.10630
    61. Zimprich A., Grabowski M., Asmus F. et al. Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet, 2001, vol. 29, pp. 66–69. DOI: 10.1038/ng709
    62. Makino S., Kaji R., Ando S. et al. Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. Am J Hum Genet, 2007, vol. 80, pp. 393–406. DOI: 10.1086/512129
    63. Orlova O.R. Focal dystonia: modern approaches to diagnosis and possibilities of botulinum therapy. Nervnye bolezni, 2016, no. 4 (in Russ.), available at: https://cyberleninka.ru/article/n/fokalnye-distonii-sovremennye-podhody-k-diagnostike-i-vozmozhnosti-botulinoterapii (accessed on: 25.04.2023)
    64. Nodel’ M.R., Saloukhina N.I., Tolmacheva V.A. Influence of non-motor disorders on the quality of life of patients with cervical muscular dystonia. Nevrologiya, neyropsikhiatriya, psikhosomatika, 2022, no. 14 (3), pp. 19–25 (in Russ.). Doi: 10.14412/2074-2711-2022-3-19-25

    Метки: 2023, A.A. TEREKHOVA, classification, Etiology, genetics of dystonia, muscular dystonia, pathogenesis, Practical medicine part 21 №3. 2023, S.E. MUNASIPOVA, Z.A. ZALYALOVA

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