Genetics of neuromuscular dis­eases


Authors: S. Voháňka ;  E. Vlčková ;  J. Bednařík
Authors‘ workplace: Neurologická klinika LF MU a FN Brno
Published in: Cesk Slov Neurol N 2019; 82(2): 229-235
Category: Neuropathological window
doi: 10.14735/amcsnn2019229

Overview

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manu­script met the ICMJE “uniform requirements” for biomedical papers.


Sources

1. Echaniz-Laguna A, Mohr M, Lan­nes B et al. Myopathies in the elderly: a hospital-based study. Neuromuscul Disord 2010; 20(7): 443– 447. doi: 10.1016/ j.nmd.2010.05.003.
2. Straub V, Murphy A, Udd B et al. 229th ENMC international workshop: limb girdle muscular dystrophies - nomenclature and reformed clas­sification Naarden, the Netherlands, 17-19 March 2017. Neuromuscul Disord 2018; 28(8): 702– 710. doi: 10.1016/ j.nmd.2018.05.007.
3. Wattjes MP, Fischer D (eds). Neuromuscular imaging. New York: Springer-Verlag 2013.
4. Jurkat-Rott K, Lehman­n-Horn F. Muscle chan­nelopathies and critical points in functional and genetic studies. J Clin Invest 2005; 115(8): 2000– 2009. doi: 10.1172/ JCI25525.
5. Trip J, Drost G, Ginjaar HB et al. Redefin­­ing the clinical phenotypes of non-dystrophic myotonic syndromes. J Neurol Neurosurg Psychiatry 2009; 80(6): 647– 652. doi: 10.1136/ jn­np.2008.162396.
6. Braathen GJ, Sand JC, Lobato A et al. Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur J Neurol 2011; 18(1): 39e48.
7. Foley C, Schofield I, Eglon G et al. Charcot-Marie-Tooth dis­ease in Northern England. J Neurol Neurosurg Psychiatry 2012; 83(5): 572– 573. doi: 10.1136/ jn­np-2011-300285.
8. Fridman V, Bundy B, Reil­ly MM et al. CMT subtypes and dis­ease burden in patients enrol­led in the Inherited Neuropathies Consortium natural history study: a cros­s--sectional analysis. J Neurol Neurosurg Psychiatry 2015; 86(8): 873– 878. doi: 10.1136/ jn­np-2014-308826.
9. Murphy SM, Laura M, Fawcett K et al. Charcot-Marie-Tooth dis­ease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 2012; 83(7): 706– 710. doi: 10.1136/ jn­np-2012-302451.
10. Ramchandren S. Charcot Marie Tooth and other genetic polyneurpathies. Continuum (Min­neap Min­n) 2017; 23(5): 1360– 1377. doi: 10.1212/ CON.0000000000000529.
11. Nelis E, Van Broeckhoven C, De Jonghe P et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth dis­ease type 1 and hereditary neuropathy with liability to pres­sure palsies: a European col­laborative study. Eur J Hum Genet 1996; 4(1): 25– 33.
12. Saporta AS, Sottile SL, Mil­ler LJ et al. Charcot-Marie-Tooth dis­ease subtypes and genetic test­­ing strategies. Ann Neurol 2011; 69(1): 22– 33. doi: 10.1002/ ana.22166.
13. Bergamin G, Boaretto F, Briani C et al. Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth dis­ease. Neuromolecular Med 2014; 16(3): 540– 550. doi: 10.1007/ s12017-014-8307-9.
14. Tim­merman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) Dis­ease within the frame of the human genome project succes­s. Genes 2014; 5(1): 13– 32. doi: 10.3390/ genes5010013.
15. Goutman SA. Dia­gnosis and clinical management of amyotrophic lateral sclerosis and other motor neuron disorders. Continuum (Min­neap Min­n) 2017; 23(5): 1332– 1359. doi: 10.1212/ CON.0000000000000535. 
16. Volk AE, Weishaupt JH, Andersen PM et al. Cur­rent knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis. Med Genet 2018; 30(2): 252–258. doi: 10.1007/ s11825-018-0185-3. 
17. Ridzoň P. Ken­nedyho nemoc (bulbospinální svalová atrofie). Neurol praxi 2016; 17(6): 359– 361. 
18. Arnold WD, Kas­sar D, Kis­sel JT. Spinal muscular atrophy: dia­gnosis and management in a new therapeutic era. Muscle Nerve 2015; 51(2): 157– 167. doi: 10.1002/ mus.24497.
19. Mazanec R, Neupauerová J, Baumgartner D et al. Hereditární motorické neuropatie. Neurol praxi 2016; 17(6): 354– 358. 
20. Ros­sor AM, Kalmar B, Greensmith L et al. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry 2012; 83(1): 6– 14. doi: 10.1136/ jn­np-2011-300952.
21. Logroscino G, Traynor BJ, Hardiman O et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry 2010; 81(4): 385– 390. doi: 10.1136/ jn­np.2009.183525.
22. Ludolph AC. Leitlinie Amyotroph(4)e Lateralsklerose (Motoneuronerkrankungen) (2015). In: Deutsche Gesel­lschaft für Neurologie (Hrsg) Leitlinien für Dia­gnostik und Therapie in der Neurologie. [online]. Available from URL: https:/ / www.dgn.org/ leitlinien/ 3012-l­l-18-l­l-amyotrophe-lateralsklerose-motoneuronerkrankungen. 
23. Chiò A, Battistini S, Calvo A et al. Genetic counsel­­­l­­ing in ALS: facts, uncertainties and clinical suggestions. J Neurol Neurosurg Psychiatry 2014; 85(5): 478– 485. doi: 10.1136/ jn­np-2013-305546.

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Paediatric neurology Neurosurgery Neurology

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