Nová familiární varianta genu SGCE spojená s myoklonickou dystonií a souběžnou roztroušenou sklerózou?
Authors:
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
Authors‘ workplace:
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
Published in:
Cesk Slov Neurol N 2026; 89(1): 50-52
Category:
Letter to Editor
doi:
https://doi.org/10.48095/cccsnn202650
--------------------
Sources
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.
Labels
Paediatric neurology Neurosurgery NeurologyArticle was published in
Czech and Slovak Neurology and Neurosurgery
2026 Issue 1
- Metamizole at a Glance and in Practice – Effective Non-Opioid Analgesic for All Ages
- Hope Awakens with Early Diagnosis of Parkinson's Disease Based on Skin Odor
- Metamizole vs. Tramadol in Postoperative Analgesia
- Memantine in Dementia Therapy – Current Findings and Possible Future Applications
- Memantine Eases Daily Life for Patients and Caregivers
-
All articles in this issue
- Editorial
- Poděkování recenzentům
- Ofatumumab in the treatment of multiple sclerosis – from clinical outcomes to the economic sustainability of treatment
- Self-management in adult patients after stroke – a review of self-management programs
- Ladislav Haškovec and establishing the University Department for Nervous Diseases of Charles University
- Comparison of results of prenatal and postnatal correction of open neural tube defects in Slovakia
- Brain death investigation – survey of physicians in the Czech Republic
- Novel familial SGCE gene variant associated with myoclonus-dystonia and concomitant multiple sclerosis?
- White cerebellum sign – radiological indicator of poor prognosis
- Guidelines of the Czech Neurological Society of the CMA JEP and the Czech Neurosurgical Society of the CMA JEP for the management of spontaneous intracerebral hemorrhage in adult patients – version 2026
- Fibrinogen as a predictor of intracranial hemorrhage after intravenous thrombolysis in ischemic stroke
- Komentár ke článku Michalovová et Bartoš. Krátké kognitivní testy pro klinickou praxi
- Report on the 2nd Taiwan Otoneurology Symposium, Dizziness Journal Club, and Otoneurology Continuing Medical Education Conference
- Czech and Slovak Neurology and Neurosurgery
- Journal archive
- Current issue
- About the journal
Most read in this issue
- Self-management in adult patients after stroke – a review of self-management programs
- Ofatumumab in the treatment of multiple sclerosis – from clinical outcomes to the economic sustainability of treatment
- Novel familial SGCE gene variant associated with myoclonus-dystonia and concomitant multiple sclerosis?
- Brain death investigation – survey of physicians in the Czech Republic