Progressive myoclonic epilepsies Definitive and still undetermined causes

Neurology

Volumn 82, Issue 5, 2014, Pages 405-411

  Franceschetti, Silvana ^a   Michelucci, Roberto ^b   Canafoglia, Laura ^a   Striano, Pasquale ^c   Gambardella, Antonio ^d,e   Magaudda, Adriana ^f   Tinuper, Paolo ^g   Neve, Angela La ^h   Ferlazzo, Edoardo ^d   Gobbi, Giuseppe ⁱ   Giallonardo, Anna Teresa ^j   Capovilla, Giuseppe ^k   Visani, Elisa ^a   Panzica, Ferruccio ^a   Avanzini, Giuliano ^a   Tassinari, Carlo Alberto ^g   Bianchi, Amedeo ^l   Zara, Federico ^m  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^e INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^f UNIVERSITY OF MESSINA   (Italy)

^g UNIVERSITY OF BOLOGNA   (Italy)

^h POLICLINICO   (Italy)

ⁱ IRCCS Istituto di Scienze Neurologiche di Bologna   (Italy)

^j SAPIENZA UNIVERSITY OF ROME   (Italy)

^k CARLO POMA HOSPITAL   (Italy)

^l IRCCS POLICLINICO SAN DONATO   (Italy)

^m G GASLINI INSTITUTE   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLUSTER ANALYSIS; FEMALE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MYOCLONUS; MYOCLONUS EPILEPSY; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SEIZURE;

ADOLESCENT; ADULT; CLUSTER ANALYSIS; FEMALE; FOLLOW-UP STUDIES; HUMANS; ITALY; LAFORA DISEASE; MALE; MIDDLE AGED; MYOCLONIC EPILEPSIES, PROGRESSIVE; UNVERRICHT-LUNDBORG SYNDROME; YOUNG ADULT;

EID: 84895772699     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000077     Document Type: Article

References (31)

1. de Siqueira LF. Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects. J Neurol 2010; 257:1612-1619.
2. Bassuk AG, Wallace RH, Buhr A, et al. A homozygous mutation in human PRICKLE1 causes an autosomalrecessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet 2008;83:572-581.
3. Dibbens LM, Michelucci R, Gambardella A, et al. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Ann Neurol 2009;66:532-536.
4. Corbett MA, Schwake M, Bahlo M, et al. A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet 2011;88:657-663.
5. Berkovic SF, Andermann F, Carpenter S, Wolfe LS. Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med 1986;315:296-305.
6. Marseille Consensus Group. Classification of progressive myoclonus epilepsies and related disorders. Ann Neurol 1990;28:113-116.
7. Bhatia KP, Brown P, Gregory R, et al. Progressive myoclonic ataxia associated with coeliac disease: the myoclonus is of cortical origin, but the pathology is in the cerebellum. Brain 1995;118:1087-1093.
8. Testa D, Ambrosoni E, Franceschetti S, Salmaggi A, Soliveri P, Girotti F. Progressive myoclonic ataxia with intrathecal immune activation in six patients. Neurol Sci 2007;28:199-204.
9. Magaudda A, Ferlazzo E, Nguyen VH, Genton P. Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. Epilepsia 2006;47:860-866.
10. Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E. Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia 2008;49:549-556.
11. Genton P. Unverricht-Lundborg disease (EPM1). Epilepsia 2010;51(suppl 1):37-39.
12. 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;53:2120-2127.
13. Van Heycoptenhamm, De Jager H. Progressive myoclonus epilepsy with Lafora bodies: clinical-pathological features. Epilepsia 1963;4:95-119.
14. Minassian BA. Lafora's disease: towards a clinical, pathologic, and molecular synthesis. Pediatr Neurol 2001;25: 21-29.
15. Rossi Sebastiano D, Soliveri P, Panzica F, et al. Cortical myoclonus in childhood and juvenile onset Huntington's disease. Parkinsonism Relat Disord 2012;18:794-797.
16. Canafoglia L, Bugiani M, Uziel G, et al. Rhythmic cortical myoclonus in Niemann-Pick disease type C. Mov Disord 2006;21:1453-1456.
17. Canafoglia L, Franceschetti S, Uziel G, et al. Characterization of severe action myoclonus in sialidoses. Epilepsy Res 2011;94:86-93.
18. Rubboli G, Franceschetti S, Berkovic SF, et al. Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations. Epilepsia 2011;52:2356-2363.
19. Canafoglia L, Franceschetti S, Antozzi C, et al. Epileptic phenotypes associated with mitochondrial disorders. Neurology 2001;56:1340-1346.
20. Binelli S, Canafoglia L, Panzica F, Pozzi A, Franceschetti S. Electroencephalographic features in a series of patients with neuronal ceroid lipofuscinoses. Neurol Sci 2000; 21(3 suppl):S83-S87.
21. Cannelli N, Nardocci N, Cassandrini D, et al. Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Neuropediatrics 2007;38:46-49.
22. Franceschetti S, Gambardella A, Canafoglia L, et al. Clinical and genetic findings in 26 Italian patients with Lafora disease. Epilepsia 2006;47:640-643.
23. Arsov T, Smith KR, Damiano J, et al. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet 2011;88:566-573.
24. Andrade DM, Paton T, Turnbull J, Marshall CR, Scherer SW, Minassian BA. Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. Pediatr Neurol 2012;47:205-208.
25. Coppola G, Criscuolo C, De Michele G, et al. Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. J Neurol 2005;252:897-900.
26. Gribaa M, Salih M, Anheim M, et al. A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. Brain 2007;130: 1921-1928.
27. Synofzik M, Srulijes K, Godau J, Berg D, Schöls L. Characterizing POLG ataxia: clinics, electrophysiology and imaging. Cerebellum 2012;11:1002-1011.
28. 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;8:515-522.
29. Finsterer J, Zarrouk Mahjoub S. Epilepsy in mitochondrial disorders. Seizure 2012;21:316-321.
30. Berkovic SF, Carpenter S, Andermann F, Andermann E, Wolfe LS. Berkovic Kufs' disease: a critical reappraisal. Brain 1988;111:27-62.
31. Williams RE, Mole SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology 2012;79:183-191.