Progressive myoclonus epilepsies

Seminars in Neurology

Volumn 35, Issue 3, 2015, Pages 293-299

  Kälviäinen, Reetta ^a,b  

^a KUOPIO UNIVERSITY HOSPITAL   (Finland)

^b UNIVERSITY OF EASTERN FINLAND   (Finland)

Author keywords

EPM1; EPM2; Gaucher disease; Lafora disease; neuronal ceroid lipofuscinoses sialidosis; progressive myoclonus epilepsy; Unverricht Lundborg disease

Indexed keywords

BRIVARACETAM; CLONAZEPAM; CYSTATIN B; ETIRACETAM; MITOCHONDRIAL DNA; PIRACETAM;

ARTICLE; ATAXIA; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DISEASE COURSE; GAUCHER DISEASE; GENE FREQUENCY; GENETIC ANALYSIS; GLYCOGEN SYNTHESIS; HUMAN; MENTAL DETERIORATION; MISSENSE MUTATION; MUCOLIPIDOSIS TYPE 1; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; MYOCLONUS RENAL FAILURE SYNDROME; MYOPATHY; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPATHY; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; PROGNOSIS; PSYCHOSOCIAL CARE; RARE DISEASE; RECESSIVE INHERITANCE; SKIN BIOPSY; TRANSCRANIAL MAGNETIC STIMULATION; CLASSIFICATION; COMPLICATION; GENETICS; MYOCLONIC EPILEPSIES, PROGRESSIVE; NERVOUS SYSTEM DISEASES;

HUMANS; MYOCLONIC EPILEPSIES, PROGRESSIVE; NERVOUS SYSTEM DISEASES;

EID: 84930946465     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0035-1552620     Document Type: Article

References (60)

1. Marseille Consensus Group Classification of progressive myoclonus epilepsies and related disorders. Ann Neurol: 1990; 28 1 113 116
2. Franceschetti S., Michelucci R., Canafoglia L., et al. Collaborative LICE study group on PMEs. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology: 2014; 82 5 405 411
3. Muona M., Berkovic S. F., Dibbens L. M., et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet: 2015; 47 1 39 46
4. Kälviäinen R., Khyuppenen J., Koskenkorva P., Eriksson K., Vanninen R., Mervaala E. Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia: 2008; 49 4 549 556
5. Joensuu T., Lehesjoki A. E., Kopra O. Molecular background of EPM1-Unverricht-Lundborg disease. Epilepsia: 2008; 49 4 557 563
6. Canafoglia L., Gennaro E., Capovilla G., et al. Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations. Epilepsia: 2012; 53 12 2120 2127
7. Pinto E., Freitas J., Duarte A. J., et al. Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene. Epilepsy Res: 2012; 99 1-2 187 190
8. Hyppönen J., Äikiä M., Joensuu T., et al. Refining the phenotype of Unverricht-Lundborg disease (EPM1): A population-wide Finnish study. Neurology: 2015;; In press
9. Koskenkorva P., Khyuppenen J., Niskanen E., et al. Motor cortex and thalamic atrophy in Unverricht-Lundborg disease: voxel-based morphometric study. Neurology: 2009; 73 8 606 611
10. Koskenkorva P., Niskanen E., Hyppönen J., et al. Sensorimotor, visual, and auditory cortical atrophy in Unverricht-Lundborg disease mapped with cortical thickness analysis. AJNR Am J Neuroradiol: 2012; 33 5 878 883
11. Danner N., Julkunen P., Khyuppenen J., et al. Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). Epilepsy Res: 2009; 85 1 81 88
12. Magaudda A., Ferlazzo E., Nguyen V. H., Genton P. Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. Epilepsia: 2006; 47 5 860 866
13. Lalioti M. D., Scott H. S., Genton P., et al. A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. Am J Hum Genet: 1998; 62 4 842 847
14. Koskenkorva P., Hyppönen J., Aikiä M., et al. Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene. Neurodegener Dis: 2011; 8 6 515 522
15. Serratosa J. M., Minassian B. A., Ganesh S. Progressive myoclonus epilepsy of Lafora. In Noebels J. L., Avoli M., Rogawski M. A., et al, eds. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th ed. Bethesda, MD National Center for Biotechnology Information: 2012;. Available at: http://www.ncbi.nlm.nih.gov/books/NBK98134/ Accessed November 15, 2014
16. Striano P., Zara F., Turnbull J., et al. Typical progression of myoclonic epilepsy of the Lafora type: a case report. Nat Clin Pract Neurol: 2008; 4 2 106 111
17. Turnbull J., DePaoli-Roach A. A., Zhao X., et al. PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease. PLoS Genet: 2011; 7 4 e1002037
18. Baykan B., Striano P., Gianotti S., et al. Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation. Epilepsia: 2005; 46 10 1695 1697
19. Lesca G., Boutry-Kryza N., de Toffol B., et al. Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. Epilepsia: 2010; 51 9 1691 1698
20. Ferlazzo E., Canafoglia L., Michelucci R., et al. Mild Lafora disease: clinical, neurophysiologic, and genetic findings. Epilepsia: 2014; 55 12 e129 e133
21. Guerrero R., Vernia S., Sanz R., et al. A PTG variant contributes to a milder phenotype in Lafora disease. PLoS ONE: 2011; 6 6 e21294
22. Turnbull J., Girard J. M., Lohi H., et al. Early-onset Lafora body disease. Brain: 2012; 135 Pt 9 2684 2698
23. Haltia M. The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol: 2003; 62 1 1 13
24. Mole S. E., Williams R. E., Goebel H. H. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics: 2005; 6 3 107 126
25. Williams R. E., Mole S. E. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology: 2012; 79 2 183 191
26. Kousi M., Lehesjoki A. E., Mole S. E. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat: 2012; 33 1 42 63
27. Patiño L. C., Battu R., Ortega-Recalde O., et al. Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. PLoS ONE: 2014; 9 10 e109576
28. Jadav R. H., Sinha S., Yasha T. C., et al. Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. Pediatr Neurol: 2014; 50 1 85 95
29. Bonten E. J., Arts W. F., Beck M., et al. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet: 2000; 9 18 2715 2725
30. Lowden J. A., O'Brien J. S. Sialidosis: a review of human neuraminidase deficiency. Am J Hum Genet: 1979; 31 1 1 18
31. Canafoglia L., Franceschetti S., Uziel G., et al. Characterization of severe action myoclonus in sialidoses. Epilepsy Res: 2011; 94 1-2 86 93
32. Canafoglia L., Robbiano A., Pareyson D., et al. Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. Neurology: 2014; 82 22 2003 2006
33. Noer A. S., Sudoyo H., Lertrit P., et al. A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. Am J Hum Genet: 1991; 49 4 715 722
34. Mancuso M., Orsucci D., Angelini C., et al. Phenotypic heterogeneity of the 8344A>G mtDNA MERRF mutation. Neurology: 2013; 80 22 2049 2054
35. Mancuso M., Orsucci D., Angelini C., et al. Myoclonus in mitochondrial disorders. Mov Disord: 2014; 29 6 722 728
36. Baris H. N., Cohen I. J., Mistry P. K. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev: 2014; 12 01 72 81
37. Park J. K., Orvisky E., Tayebi N., et al. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res: 2003; 53 3 387 395
38. Lee N-C, Chien Y-H, Wong S-L., et al. Outcome of early-treated type III Gaucher disease patients. Blood Cells Mol Dis: 2014; 53 3 105 109
39. Tsuji S. Dentatorubral-pallidoluysian atrophy. Handb Clin Neurol: 2012; 103 587 594
40. Ikeuchi T., Onodera O., Oyake M., Koide R., Tanaka H., Tsuji S. Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. Semin Cell Biol: 1995; 6 1 37 44
41. Berkovic S. F., Dibbens L. M., Oshlack A., et al. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet: 2008; 82 3 673 684
42. Dibbens L. M., Michelucci R., Gambardella A., et al. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Ann Neurol: 2009; 66 4 532 536
43. Bassuk A. G., Wallace R. H., Buhr A., et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet: 2008; 83 5 572 581
44. Boissé Lomax L., Bayly M. A., Hjalgrim H., et al. 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. Brain: 2013; 136 Pt 4 1146 1154
45. Iivanainen M., Himberg J. J. Valproate and clonazepam in the treatment of severe progressive myoclonus epilepsy. Arch Neurol: 1982; 39 4 236 238
46. Striano P., Belcastro V. Treatment of myoclonic seizures. Expert Rev Neurother: 2012; 12 12 1411 1417, quiz 1418
47. Roivainen R., Karvonen M. K., Puumala T. Seizure control in Unverricht-Lundborg disease: a single-centre study. Epileptic Disord: 2014; 16 2 191 195
48. Koskiniemi M., Van Vleymen B., Hakamies L., Lamusuo S., Taalas J. Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo. J Neurol Neurosurg Psychiatry: 1998; 64 3 344 348
49. Crest C., Dupont S., Leguern E., Adam C., Baulac M. Levetiracetam in progressive myoclonic epilepsy: an exploratory study in 9 patients. Neurology: 2004; 62 4 640 643
50. Magaudda A., Gelisse P., Genton P. Antimyoclonic effect of levetiracetam in 13 patients with Unverricht-Lundborg disease: clinical observations. Epilepsia: 2004; 45 6 678 681
51. Demir C. F., Ozdemir H. H., Müngen B. Efficacy of topiramate as add-on therapy in two different types of progressive myoclonic epilepsy. Acta Med (Hradec Kralove): 2013; 56 1 36 38
52. Aykutlu E., Baykan B., Gürses C., Bebek N., Büyükbabani N., Gökyigit A. Add-on therapy with topiramate in progressive myoclonic epilepsy. Epilepsy Behav: 2005; 6 2 260 263
53. Italiano D., Pezzella M., Coppola A., et al. A pilot open-label trial of zonisamide in Unverricht-Lundborg disease. Mov Disord: 2011; 26 2 341 343
54. Hynynen J., Komulainen T., Tukiainen E., et al. Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation. Liver Transpl: 2014; 20 11 1402 1412
55. Finsterer J., Zarrouk Mahjoub S. Mitochondrial toxicity of antiepileptic drugs and their tolerability in mitochondrial disorders. Expert Opin Drug Metab Toxicol: 2012; 8 1 71 79
56. Eldridge R., Iivanainen M., Stern R., Koerber T., Wilder B. J. Baltic myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. Lancet: 1983; 2 8354 838 842
57. Medina M. T., Martínez-Juárez I. E., Durón R. M., et al. Treatment of myoclonic epilepsies of childhood, adolescence, and adulthood. Adv Neurol: 2005; 95 307 323
58. Tai K. K., Truong D. D. Brivaracetam is superior to levetiracetam in a rat model of post-hypoxic myoclonus. J Neural Transm: 2007; 114 12 1547 1551
59. Mula M. Brivaracetam for the treatment of epilepsy in adults. Expert Rev Neurother: 2014; 14 4 361 365
60. Fujimoto A., Yamazoe T., Yokota T., et al. Clinical utility of vagus nerve stimulation for progressive myoclonic epilepsy. Seizure: 2012; 21 10 810 812