Some genetic and biochemical aspects of myoclonus

Neurophysiologie Clinique

Volumn 36, Issue 5-6, 2006, Pages 271-279

  Grisar, T ^a   de Nijs, L ^a   Chanas, G ^a   Leon C ^a   Coumans, B ^a   Foidart, A ^a   Lakaye, B ^a  

^a UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

Epilepsy; Genetic defects; Myoclonin 1; Myoclonus

Indexed keywords

MYOCLONIN; PROTEIN; UNCLASSIFIED DRUG; CALCIUM BINDING PROTEIN; EFHC1 PROTEIN, HUMAN; EFHC1 PROTEIN, MOUSE;

ARTICLE; GENERALIZED EPILEPSY; GENETIC DISORDER; HUMAN; IDIOPATHIC DISEASE; MYOCLONUS; MYOCLONUS EPILEPSY; NERVE CELL NETWORK; PATHOGENESIS; STRUCTURAL GENE; ADULT; ANIMAL; BRAIN; CELL LINE; CELL STRAIN COS1; CERCOPITHECUS; CHILD; CLASSIFICATION; DISEASE COURSE; GENETIC TRANSFECTION; GENETICS; HAMSTER; HELA CELL; METABOLISM; MITOSIS SPINDLE; MOUSE; NERVE CELL; NEUROLOGIC DISEASE; PATHOPHYSIOLOGY; PHYSIOLOGY; PRENATAL DEVELOPMENT; REVIEW; SYNDROME; SYRIAN HAMSTER;

ADULT; ANIMALS; BRAIN; CALCIUM-BINDING PROTEINS; CELL LINE; CERCOPITHECUS AETHIOPS; CHILD; COS CELLS; CRICETINAE; DISEASE PROGRESSION; EPILEPSIES, MYOCLONIC; GENETIC DISEASES, INBORN; HELA CELLS; HUMANS; MESOCRICETUS; MICE; MITOTIC SPINDLE APPARATUS; MYOCLONIC EPILEPSY, JUVENILE; MYOCLONUS; NERVOUS SYSTEM DISEASES; NEURONS; SYNDROME; TRANSFECTION;

EID: 33847270670     PISSN: 09877053     EISSN: 17697131     Source Type: Journal    
DOI: 10.1016/j.neucli.2006.11.002     Document Type: Article

References (45)

1. Bai D., Alonso M.E., Medina M.T., Bailey J.N., Morita R., Cordova S., et al. Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. Am. J. Med. Genet. 113 (2002) 268-274
2. Bai J., Ramos R.L., Ackman J.B., Thomas A.M., Lee R.V., and LoTurco J.J. RNAi reveals doublecortin is required for radial migration in rat neocortex. Nat. Neurosci. 6 (2003) 1277-1283
3. Bakker M.J., van Dijk J.G., van den Maagdenberg A.M., and Tijssen M.A. Startle syndromes. Lancet Neurol. 5 (2006) 513-524
4. Caviness J.N., Adler C.H., Beach T., Wetjen K., and Caselli R.J. Myoclonus in Lewy body disorders. In: Fahn S., Frucht S.J., Truong D.D., and Hallett M. (Eds). Myoclonus and paroxysmal dyskinesias. Advances in neurology, vol. 89 (2002), Lippincott Williams & Wilkins, New York 23-30
5. Caviness J.N., Adler C.H., Beach T.G., Wetjen K.J., and Caselli R.J. Small amplitude cortical myoclonus in Parkinson's disease: physiology and clinical observations. Mov. Disord. 17 (2002) 657-662
6. Caviness J.N., and Brown P. Myoclonus: current concepts and recent advances. Lancet Neurol. 3 (2004) 598-607
7. Caviness J.N., Gwinn-Hardy K.A., Adler C.H., and Muenter M.D. Electrophysiological observations in hereditary parkinsonism-dementia with Lewy body pathology. Mov. Disord. 15 (2000) 140-145
8. Chan E.M., Young E.J., Ianzano L., Munteanu I., Zhao X., Christopoulos C.C., et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nat. Genet. 35 2 (2003) 125-127
9. Claes L., Ceulemans B., Audenaert D., Smets K., Lofgren A., Del-Favero J., et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum. Mutat. 21 6 (2003) 615-621
10. de Falco F.A., Striano P., de Falco A., Striano S., Santangelo R., Perretti A., et al. Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with. Neurology 60 (2003) 1381-1385 (ADCME)
11. de Nijs L., Lakaye B., Coumans B., Léon C., Ikeda T., Delgado-Escueta A.V., et al. EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. Exp. Cell. Res. 312 (2006) 2872-2879
12. Del Giudice E.M., Coppola G., Bellini G., Cirillo G., Scuccimarra G., and Pascotto A. A mutation (V260M) in the middle of the M2 porelining domain of the glycine receptor causes hereditary hyperekplexia. Eur. J. Hum. Genet. 9 (2001) 873-876
13. Delgado-Escueta A.V., Daga A., Suzuki T., Martinez-Juarez I.E., Duron R.M., Alonso M.E., et al. Juvenile myoclonic epilepsy: antelepsini 1/EFHC1 functions, 26th International Epilepsy Congress, Paris, vol. 46, suppl. 6 (2005) 256
14. Delgado-Escueta A.V., Medina M.T., Bai D.S., Fong C.Y., Tanaka M., and Alonso M.E. Genetics of idiopathic myoclonic epilepsies: an overview. Adv. Neurol. 89 (2002) 161-184
15. Dravet C. Les épilepsies graves de l'enfant. Vie Med. 8 (1978) 543-548
16. Dravet C., Bureau M., Guerrini R., Giraud N., and Roger J. Severe myoclonic epilepsy in infants. Epileptic syndromes in infancy, childhood and adolescence, 2nd ed (1992), John Libbey & CompanyLtd, London 75-88
17. Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet. 22 (2006) 151-159
18. Friedreich N. Paramyoclonus multiplex; [Virchows] Archiv für pathologische Anatomie und Physiologie und klinische Medicin. Berlin 86 (1881) 421-430
19. Gardiner R.M. Clinical features and molecular genetics basis of the neuronal ceroid lipofuscinoses. Adv. Neurol. 89 (2002) 211-215
20. Genton P., and Gelisse P. Juvenile myoclonic epilepsy. Arch. Neurol. 58 (2001) 1487-1490
21. Graham B.A., Schofield P.R., Sah P., and Callister R.J. Altered inhibitory synaptic transmission in superficial dorsal horn neurones in spastic and oscillator mice. J. Physiol. 551 (2003) 905-916
22. Greenberg D.A., Delgado-Escueta A.V., Maldonado H.M., and Widelitz H. Segregation analysis of juvenile myoclonic epilepsy. Genet. Epidemiol. 5 (1988) 81-94
23. Ikeda K., Brown J.A., Yagi T., Norrander J.M., Hirono M., Eccleston E., et al. Rib72, a conserved protein associated with the ribbon compartment of flagellar A-microtubules and potentially involved in the linkage between outer doublet microtubules. J. Biol. Chem. 278 (2003) 7725-7734
24. Ikeda T., Ikeda K., Enomoto M., Park M.K., Hirono M., and Kamiya R. The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella. FEBS. Lett 579 (2005) 819-822
25. King S.M. Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy. Cell Motil. Cytoskeleton 63 (2006) 245-253
26. Klein C., Liu L., Doheny D., Kock N., Muller B., de Carvalho Aguiar P., et al. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. Ann. Neurol. 52 (2002) 675-679
27. Klein C. Myoclonus and myoclonus-dystonias. In: Pulst S.M. (Ed). Genetics of movement disorders (2003), Academic Press/Elsevier Science, San Diego, USA 449-469
28. Liu A.W., Delgado-Escueta A.V., Serratosa J.M., Alonso M.E., Medina M.T., Gee M.N., et al. Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. Am. J. Hum. Genet. 57 (1995) 368-381
29. Marsden C.D., Hallett M., and Fahn S. The nosology and pathophysiology of myoclonus. In: Marsden C.D., and Fahn S. (Eds). Movement disorders (1982), Butterworths, London 196-248
30. Meencke H.J., and Janz D. Neuropathological findings in primary generalized epilepsy: a study of eight cases. Epilepsia 25 (1984) 8-21
31. Merle U., Schaefer M., Ferenci P., and Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson disease: a cohort study. Gut 18 (2006) (Epub ahead of print)
32. Minassian B.A. Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease. Adv. Neurol. 89 (2002) 199-210
33. Mori Y., Hara Y., Aguan K., Katano M., Yamamoto S., Suzuki T., et al. Molecular and functional interaction of the juvenile myoclonic epilepsy-related gene EFHC1 with the redox-sensitive TRPM2 channel (2005), Society for Neuroscience, Washington
34. 2+-regulated nucleoside-diphosphate kinase system within the Chlamydomonas flagellum. The regulatory subunit p72. J. Biol. Chem. 277 (2002) 34271-34279
35. Pennacchio L.A., Lehesjoki A.E., Stone N.E., Willour V.L., Virtaneva K., Miao J., et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271 (1996) 1731-1734
36. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30 (1989) 389-399
37. Rees M.I., Andrew M., Jawad S., and Owen M.J. Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor. Hum. Mol. Genet. 3 (1994) 2175-2179
38. Rees M.I., Harvey K., Pearce B.R., Chung S.K., Duguid I.C., Thomas P., et al. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human Startle disease. Nat. Genet. 38 7 (2006) 801-806
39. Sawamoto K., Wichterle H., Gonzalez-Perez O., Cholfin J.A., Yamada M., Spassky N., et al. New neurons follow the flow of cerebrospinal fluid in the adult brain. Science 311 (2006) 629-632
40. Schüle B., Kock N., Svetel M., Dragasevic N., Hedrich K., de Carvalho Aguiar P., et al. Genetic heterogeneity in ten families with myoclonus-dystonia. J. Neurol. Neurosurg. Psychiatry 75 (2004) 1181-1185
41. Shahwan A., Farrell M., and Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol. 4 (2005) 239-248
42. Suzuki T., Delgado-Escueta A.V., Aguan K., Alonso M.E., Shi J., Hara Y., et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat. Genet. 36 (2004) 842-849
43. Woermann F.G., Free S.L., Koepp M.J., Sisodiya S.M., and Duncan J.S. Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI. Brain 122 Pt 11 (1999) 2101-2108
44. Wolf P. Juvenile myoclonic epilepsy. In: Company J.L. (Ed). Epilepsy syndrome in infancy, childhood and adolescence (1992) 313-327
45. Zimprich A., Grabowski M., Asmus F., Naumann M., Berg D., Bertram M., et al. Mutations in the gene encoding epsilonsarcoglycan cause myoclonus-dystonia syndrome. Nat. Genet. 29 (2001) 66-69