Characterization of severe action myoclonus in sialidoses

Epilepsy Research

Volumn 94, Issue 1-2, 2011, Pages 86-93

  Canafoglia, Laura ^a   Franceschetti, Silvana ^a   Uziel, Graziella ^a   Ciano, Claudia ^a   Scaioli, Vidmer ^a   Guerrini, Renzo ^b   Visani, Elisa ^a   Panzica, Ferruccio ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Cortical rhythmic myoclonus; EEG EMG coherence; Progressive myoclonus epilepsy; Sialidosis; Spectral analysis; Unverricht Lundborg disease

Indexed keywords

CLOBAZAM; CLONAZEPAM; DIAZEPAM; ETIRACETAM; LORAZEPAM; PHENOBARBITAL; PIRACETAM; TOPIRAMATE; VALPROIC ACID;

ADULT; ARTICLE; CHERRY RED SPOT; CLINICAL ARTICLE; CONTROLLED STUDY; CORTICAL SYNCHRONIZATION; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; EVOKED SOMATOSENSORY RESPONSE; HUMAN; MYOCLONUS; MYOCLONUS EPILEPSY; OPTIC NERVE ATROPHY; POLYNEUROPATHY; PRIORITY JOURNAL; SIALIDOSIS; SKELETON MALFORMATION;

ADOLESCENT; ADULT; AGED; CEREBRAL CORTEX; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUCOLIPIDOSES; MYOCLONUS; SPECTRUM ANALYSIS; YOUNG ADULT;

EID: 79952444836     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2011.01.013     Document Type: Article

References (31)

1. Allegranza A., Tredici G., Marmiroli P., Di Donato S., Franceschetti S., Mariani C. Sialidosis type I: pathological study in an adult. Clin. Neuropathol. 1989, 8:266-271.
2. Baselli G., Cerutti S., Civardi S., Liberati D., Lombardi F., Malliani A., Pagani M. Spectral and cross-spectral analysis of heart rate and arterial blood pressure variability signals. Comput. Biomed. Res. 1986, 19:520-534.
3. Bonten E.J., Arts W.F., Beck M., Covanis A., Donati M.A., Parini R., Zammarchi E., d'Azzo A. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum. Mol. Genet. 2000, 9:2715-2725.
4. Brown P., Marsden C.D. Rhythmic cortical and muscle discharge in cortical myoclonus. Brain 1996, 119:1307-1316.
5. Brown P., Farmer S.F., Halliday D.M., Marsden J., Rosenberg J.R. Coherent cortical and muscle discharge in cortical myoclonus. Brain 1999, 122:461-472.
6. Canafoglia L., Ciano C., Panzica F., Scaioli V., Zucca C., Agazzi P., Visani E., Avanzini G., Franceschetti S. Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease. Neurology 2004, 63:2309-2315.
7. Canafoglia L., Ciano C., Visani E., Anversa P., Panzica F., Viri M., Gennaro E., Zara F., Madia F., Franceschetti S. Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease. Epilepsy Res. 2010, 89:232-237.
8. Deletis V., Beric A. Electrically evoked long loop responses (LLR): normative data for upper and lower extremities. Electromyogr. Clin. Neurophysiol. 1989, 29:433-437.
9. Franceschetti S., Uziel G., Di Donato S., Caimi L., Avanzini G. Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult. J. Neurol. Neurosurg. Psychiatry 1980, 43:934-940.
10. Franceschetti S., Sancini G., Buzzi A., Zucchini S., Paradiso B., Magnaghi G., Frassoni C., Chikhladze M., Avanzini G., Simonato M. A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. Neurobiol. Dis. 2007, 25:675-685.
11. Danner N., Julkunen P., Khyuppenen J., Hukkanen T., Könönen M., Säisänen L., Koskenkorva P., Vanninen R., Lehesjoki A.E., Kälviäinen R., Mervaala E. Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). Epilepsy Res. 2009, 85:81-88.
12. Grosse P., Guerrini R., Parmeggiani L., Bonanni P., Pogosyan A., Brown P. Abnormal corticomuscular and intermuscular coupling in high-frequency rhythmic myoclonus. Brain 2003, 126:326-342.
13. Hanajima R., Okabe S., Terao Y., Furubayashi T., Arai N., Inomata-Terada S., Hamada M., Yugeta A., Ugawa Y. Difference in intracortical inhibition of the motor cortex between cortical myoclonus and focal hand dystonia. Clin. Neurophysiol. 2008, 119:1400-1407.
14. Huang Y.Z., Lai S.C., Lu C.S., Weng Y.H., Chuang W.L., Chen R.S. Abnormal cortical excitability with preserved brainstem and spinal reflexes in sialidosis type I. Clin. Neurophysiol. 2008, 119:1042-1050.
15. Kälviäinen R., Khyuppenen J., Koskenkorva P., Eriksson K., Vanninen R., Mervaala E. Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia 2008, 49:549-556.
16. Koskenkorva P., Khyuppenen J., Niskanen E., Könönen M., Bendel P., Mervaala E., Lehesjoki A.E., Kälviäinen R., Vanninen R. Motor cortex and thalamic atrophy in Unverricht-Lundborg disease: voxel-based morphometric study. Neurology 2009, 73:606-611.
17. Lai S.C., Chen R.S., Wu Chou Y.H., Chang H.C., Kao L.Y., Huang Y.Z., Weng Y.H., Chen J.K., Hwu W.L., Lu C.S. A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome. Eur. J. Neurol. 2009, 16:912-919.
18. Lalioti M.D., Scott H.S., Buresi C., Rossier C., Bottani A., Morris M.A., Malafosse A., Antonarakis S.E. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 1997, 386:846-851.
19. Lieuallen K., Pennacchio L.A., Park M., Myers R.M., Lennon G.G. Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes. Hum. Mol. Genet. 2001, 10:1867-1871.
20. Magaudda A., Gelisse P., Genton P. Antimyoclonic effect of levetiracetam in 13 patients with Unverricht-Lundborg disease: clinical observations. Epilepsia 2004, 45:678-681.
21. 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, 47:860-866.
22. O'Brien J.S. Neuraminidase deficiency in the cherry red spot-myoclonus syndrome. Biochem. Biophys. Res. Commun. 1977, 79:1136-1141.
23. Panzica F., Canafoglia L., Franceschetti S., Binelli S., Ciano C., Visani E., Avanzini G. Movement-activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG-EMG relationship estimated using autoregressive models. Clin. Neurophysiol. 2003, 114:1041-1052.
24. Ramachandran N., Girard J.M., Turnbull J., Minassian B.A. The autosomal recessively inherited progressive myoclonus epilepsies and their genes. Epilepsia 2009, 50:29-36.
25. Rapin I., Goldfischer S., Katzman R., Engel J., O'Brien J.S. The cherry-red spot myoclonus syndrome. Ann. Neurol. 1978, 3:234-242.
26. Rossini P.M., Barker A.T., Berardelli A., Caramia M.D., Caruso G., Cracco R.Q., Dimitrijević M.R., Hallett M., Katayama Y., Lücking C.H., et al. Non-invasive electrical and magnetic stimulation of the brain, spinal cord and roots: basic principles and procedures for routine clinical application. Report of an IFCN committee. Electroencephalogr. Clin. Neurophysiol. 1994, 91:79-92.
27. Shibasaki H., Kuroiwa Y. Electroencephalographic correlates of myoclonus. Electroencephalogr. Clin. Neurophysiol. 1975, 39:455-463.
28. Shibasaki H., Yamashita Y., Neshige R., Tobimatsu S., Fukui R. Pathogenesis of giant somatosensory evoked potentials in progressive myoclonic epilepsy. Brain 1985, 108:225-240.
29. Silén T., Forss N., Salenius S., Karjalainen T., Hari R. Oscillatory cortical drive to isometrically contracting muscle in Unverricht-Lundborg type progressive myoclonus epilepsy (ULD). Clin. Neurophysiol. 2002, 113:1973-1979.
30. Tobimatsu S., Fukui R., Shibasaki H., Kato M., Kuroiwa Y. Electrophysiological studies of myoclonus in sialidosis type 2. Electroencephalogr. Clin. Neurophysiol. 1985, 60:16-22.
31. Ugawa Y., Hanajima R., Terao Y., Kanazawa I. Exaggerated 16-20Hz motor cortical oscillation in patients with positive or negative myoclonus. Clin. Neurophysiol. 2003, 114:1278-1284.