Progressive myoclonic epilepsy

Neurology India

Volumn 58, Issue 4, 2010, Pages 514-522

  Satishchandra, P ^a   Sinha, S ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

Lafora body disease; myoclonic epilepsy with ragged red fiber; neuronal ceroid lipofuscinoses; progressive myoclonic epilepsy; Unverricht Lundborg disease

Indexed keywords

CYSTATIN B; LAFORIN; PHOSPHATASE; UNCLASSIFIED DRUG; EPM2A PROTEIN, HUMAN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE;

ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; COGNITIVE DEFECT; COHORT ANALYSIS; DEMENTIA; DIAGNOSTIC IMAGING; DISEASE DURATION; DISEASE SEVERITY; ELECTROPHYSIOLOGY; GENE LOCUS; HEREDITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; MOLECULAR GENETICS; MYOCLONUS EPILEPSY; NEURONAL CEROID LIPOFUSCINOSIS; REVIEW; CLASSIFICATION; COGNITION DISORDERS; ELECTROENCEPHALOGRAPHY; GENETICS; INDIA; MYOCLONIC EPILEPSIES, PROGRESSIVE; PATHOLOGY; PROCEDURES; SKELETAL MUSCLE; ULTRASTRUCTURE;

COGNITION DISORDERS; DIAGNOSTIC IMAGING; ELECTROENCEPHALOGRAPHY; HUMANS; INDIA; MUSCLE, SKELETAL; MYOCLONIC EPILEPSIES, PROGRESSIVE; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR;

EID: 77956366437     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.68660     Document Type: Review

References (54)

1. Berkovic S F, Andermann F, Carpenter S, Wolfe LS. Progressive myoclonus epilepsies: Specific causes and diagnosis. N Engl J Med 1986;315:296-305.
2. Berkovic S F, Cochius J, Andermann E, Andermann F. Progressive myoclonic epilepsies: Clinical and genetic aspects. Epilepsia 1993;34:19-30.
3. th ed. London: Edward Arnold; 1997. p. 668-676
4. Classification of progressive myoclonus epilepsies and related disorders. Marseille Consensus Group. Ann Neurol 1990;28:113-116
5. Acharya JN, Satishchandra P, Asha T, Shankar SK. Lafora's disease in south India: A clinical, electrophysiological and pathological study. Epilepsia 1993;34:476-487
6. Acharya JN, Satishchandra P, Shankar SK. Familial progressive myoclonic epilepsy: Clinical and electrophysiologic observations. Epilepsia 1995;36:429-434
7. Sinha S, Satishchandra P, Yasha T, Gayathri N, Shankar SK. Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from south India. J Neurol Sci 2007;252:16-23.
8. Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: A review of genetic and therapeutic aspects. Lancet Neurol 2005;4:239-248
9. Singh S, Ganesh S. Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. Hum Mutat 2009;30:715-723
10. Dastur DK, Singhal BS, Gootz M, Seitelberger M. Atypical inclusion bodies with myoclonic epilepsy. Acta Neuropathologica 1966;7:16-25.
11. Chowdhury C, Jain S, Roy S, Maheshwari MC. Lafora's disease: A case report. Neurol India 1984;32:59-64.
12. Jain S, Maheshwari MC. Progressive myoclonic epilepsies without EEG abnormality. Neurol India 1987;35:159-162
13. Gulati S, Maheshwari R, Kabra M, Verma IC, Kalra V. Juvenile neuronal ceroid lipofuscinosis. Indian J Pediatr 2000;67:689-691
14. Mehndiratta MM, Agarwal P, Tatke M, Krishnamurthy M. Neurological mitochondrial cytopathies. Neurol India 2002;50:162-167
15. Sundaram C, Meena AK, Murthy JM, Venkateswar RB, Mohandas S. Diagnosis of mitochondrial diseases: Clinical and histological study of sixty patients with ragged red fibers. Neurol India 2004;52:353-358
16. Sinha S, Satishchandra P, Vani S, Shankar SK. Neuronal ceroid lipofuscinosis: A clinicopathological study. Seizure 2004;13:235-240
17. Ganesh S, Puri R, Singh S, Mittal S, Dubey D. Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy. J Hum Genet 2006;51:1-8.
18. Genton P, Borg M, Vigliano P, Pellisier J, Roger J. Semi-late and rapidly progressive case of Lafora's disease with predominant cognitive symptoms. Eur Neurol 1989;29:333-338
19. Rapin I. Myoclonus in neuronal storage and Lafora diseases. In: Fahn S, Marsden CD, Von Woert MH, editors. Myoclonus-Advances in Neurology. Vol.43. New York: Raven Press; 1986. p. 65-85.
20. Van Heycop Ten Ham M W. Lafora disease: A form of progressive myoclonic epilepsy. In: Vinken PJ, Bruyn GW, editors. Handbook of Clinical Neurology. Vol.15. Amsterdam: North Holland Publishers; 1974. p. 382-422.
21. Villanueva V, Alvarez-Linera J, Gómez-Garre P, Gutiérrez J, Serratosa JM. MRI volumetry and proton MR spectroscopy of the brain in Lafora disease. Epilepsia 2006;47:788-792
22. Altindag E, Kara B, Baykan B, Terzibasioglu E, Sencer S, Onat L, et al. MR spectroscopy findings in Lafora disease. Neuroimaging 2009;19:359-365
23. Busard BL, Renier WO, Gabreels FJ, Jaspar HH, Van Haelst UJ, Sloof JL. Lafora's disease: Comparison of inclusion bodies in skin and in brain. Arch Neurol 1986;43:296-299
24. Busard BL, Gabreel-Festen AA, Renier WO, Gabreels FJ, Stadhouders AM. Axillary skin biopsy: A reliable test for the diagnosis of Lafora's disease. Ann Neurol 1987;21:599-601.
25. Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet 1998;20:171-174
26. Rao SN, Sharma J, Maity R, Jana NR. Co-chaperone CHIP stabilizes aggregate-prone malin, a ubiquitin ligase mutated in Lafora disease. J Biol Chem 2010;285:1404-1413
27. Serratosa JM, Gardiner RM, Lehesjoki AE, Pennacchio LA, Myers RM. The molecular genetic bases of the progressive myoclonus epilepsies. Adv Neurol 1999;79:383-398
28. Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nat Genet 2003;35:125-127
29. Gentry MS, Worby CA, Dixon JE. Insights into Lafora disease: Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. Proc Natl Acad Sci\USA 2005;102:8501-8506
30. Lohi H, Ianzano L, Zhao XC, Chan EM, Turnbull J, Scherer S W, et al. Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy. Hum Mol Genet 2005;14:2727-2736
31. Mittal S, Dubey D, Yamakawa K, Ganesh S. Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasome impairment. Hum Mol Genet 2007;16:753-762
32. Zeman W, Donanne S, Dyken P, Green J. The NCL (Batten-Vogt syndrome). In: Vinken PJ, Bruyn G W, editors. Handbook of Neurology. Vol.10. Amsterdam: North Holland Publishers; 1970. p. 588-679.
33. Boustany RM, Alroy J, Kolodny EM. Clinical classification of NCL subtypes. Am J Hum Genet 1988;5:283-289
34. rd ed. London: Churchill Livingstone; 1997. p. 143-200.
35. Berkovic S F, Carpenter S, Andermann F, Anderman E, Wolfe LS. Kuf's disease: A critical appraisal. Brain 1988;11:27-62.
36. Constantinidis J, Wishniewski KE, Wisniewski TM. The adult onset and a new late adult form of NCL. Acta Neuropathologica (Berlin) 1992;83:461-468
37. st ed, Vol.2. USA: Mosby; 1988. p. 772-794
38. Pampiglione D, Harden AS. So called NCL-neurophysiological studies in 60 children. J Neurol Neurosurg Psychiatry 1977;40:323-330
39. Vanhanen SL, Raininko R, Autti T, Santavuori P. MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis, 2: MRI findings in 21 patients. J Child Neurol 1995;10:444-450
40. Seitz D, Grodd W, Schwab A, Seeger U, Klose U, Nägele T. MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis. AJNR Am J Neuroradiol 1998;19:1373-1377
41. Ceuterick C, Martin JJ. Diagnostic role of skin or conjunctiva biopsies in neurological disorders. J Neurol Sci 1984;65:170-191
42. Carpenter S, Karpati G, Andermann F. The ultrastructural characteristics of the abnormal cytosomes in Batten-Kuf's disease. Brain 1977;100:137-156
43. Markesbury WR, Shield LK, Engel RT, Jameson HD. Late infantile NCL. Arch Neurol 1976;33:630-635
44. Goebel HH, Sharp JD. The neuronal ceroid lipofuscinoses-recent advances. Brain Pathol 1998;8:151-162
45. Bennett MJ, Hofmann SL. The neuronal ceroid-lipofuscinoses (Batten disease): A new class of lysosomal storage diseases. J Inherit Metab Dis 1999;22:535-544
46. Goebel HH, Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol 2004;14:61-69
47. Jalanko A, Tyynelä J, Peltonen L. From genes to systems: New global strategies for the characterization of NCL biology. Biochim Biophys Acta 2006;1762:934-944
48. Mole SE. Batten's disease: Eight genes and still counting? Lancet 1999;354:443-445
49. Darin N, Oldfors A, Moslemi AR, Holme E, Tulinius M. The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 2001;49:377-383
50. DiMauro S, Davidzon G. Mitochondrial DNA and disease. Ann Med 2005;37:222-232
51. Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, et al. Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Arch Neurol 2005;62:473-476
52. 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
53. Kagitani-Shimono K, Imai K, Okamoto N, Ono J, Okada S. Unverricht-Lundborg disease with cystatin B gene abnormalities. Pediatr Neurol 2002;26:55-60.
54. Berkovic S F, Mazarib A, Walid S, Neufeld MY, Manelis J, Nevo Y, et al. A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. Brain 2005;128:652-658