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Nová familiární varianta genu SGCE spojená s myoklonickou dystonií a souběžnou roztroušenou sklerózou?


Autoři: M. Wayhelová 1;  I. Šrotová 2,3;  E. Minks 4,5;  J. Martinková 1;  A. Křepelová 1;  M. Macek Jr 1;  S. Flašarová 3;  M. Hladíková 2,3;  M. Petrášová 2,3;  E. Vlčková 2,3;  P. Štourač 2,3
Působiště autorů: Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic 1;  Faculty of Medicine, Masaryk University Brno, Brno, Czech Republic 2;  Department of Neurology, Faculty of Medicine, Masaryk University, University Hospital Brno, Brno, Czech Republic 3;  First Department of Neurology, St. Anne‘s University Hospital Brno, Brno, Czech Republic 4;  Neurology, TERAneuro s. r. o., Židlochovice, Czech Republic 5
Vyšlo v časopise: Cesk Slov Neurol N 2026; 89(1): 50-52
Kategorie: Dopis redakci
doi: https://doi.org/10.48095/cccsnn202650

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Zdroje

1. Hess CW, Raymond D, Aguiar Pde C et al. Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology 2007; 68(7): 522–524. doi: 10.1212/01.wnl.0000253188.76092.06.

2. Yilmaz Z, Peall K. THUR 104 Global MD registry and dystonia non-motor symptoms study. J Neurol Neurosurg Psychiatry 2018; 89 (suppl 1): A11.2. doi: 10.1136/jnnp-2018-abn.40.

3. Grabowski M, Zimprich A, Lorenz-Depiereux B et al. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet 2003; 11(2): 138–144. doi: 10.1038/sj.ejhg.5200938.

4. Cazurro-Gutiérrez A, Marcé-Grau A, Correa-Vela M et al. ε-Sarcoglycan: unraveling the myoclonus-dystonia gene. Mol Neurobiol 2021; 58(8): 3938–3952. doi: 10.1007/s12035-021-02391-0.

5. Richards S, Aziz N, Bale S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17(5): 405–424. doi: 10.1038/gim.2015.30.

6. Esapa CT, Waite A, Locke M et al. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum Mol Genet 2007; 16(3): 327–342. doi: 10.1093/hmg/ddl472.

7. Müller B, Hedrich K, Kock N et al. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002; 71(6): 1303–1311. doi: 10.1086/344531.

8. Xiao J, Vemula SR, Xue Y et al. Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome. Neurobiol Dis 2017; 98 : 52–65. doi: 10.1016/j.nbd.2016.11.003.

9. Zimprich A, Grabowski M, Asmus F et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001; 29(1): 66–69. doi: 10.1038/ng709.

10. Peall KJ, Kurian MA, Wardle M et al. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. J Neurol 2014; 261(12): 2296–2304. doi: 10.1007/s00415-014-7488-3.

11. Mencacci N, R'bibo L, Bandres-Ciga S et al. The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Hum Mol Genet 2015; 24(18): 5326–5329. doi: 10.1093/hmg/ddv255.

12. Khan G, Hashim MJ. Epidemiology of multiple sclerosis: global, regional, national and sub-national-level estimates and future projections. J Epidemiol Glob Health 2025; 15(1): 21. doi: 10.1007/s44197-025-00353-6.

13. van der Meer JN, Beukers RJ, van der Salm SM et al. White matter abnormalities in gene-positive myoclonus-dystonia. Mov Disord 2012; 27(13): 1666–1672. doi: 10.1002/mds.25128.

14. Thompson AJ, Banwell BL, Barkhof F et al. Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria. Lancet Neurol 2018; 17(2): 162–173. doi: 10.1016/S1474-4422(17)30470-2..

15. Peall KJ, Ng J, Dy ME et al. Low CSF 5-HIAA in myoclonus dystonia. Mov Disord 2017; 32(11): 1647–1649. doi: 10.1002/mds.27117.

16. Peall KJ, Waite AJ, Blake DJ et al. Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review. Mov Disord 2011; 26(10):1939-42. doi: 10.1002/mds.23791.

Štítky
Dětská neurologie Neurochirurgie Neurologie

Článek vyšel v časopise

Česká a slovenská neurologie a neurochirurgie

Číslo 1

2026 Číslo 1

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