Introduction: Progressive myoclonic epilepsies are group of genetic diseases with grave prognosis, consist of Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis, action myoclonus- renal failure syndrome, Myoclonus epilepsy and Ragged-Red Fibers (MERRF) and type III Gaucher disease. Lafora disease (LD) is an autosomal recessive severe form of progressive myoclonic epilepsy typically start in adolescence with severe myoclonus, other focal and generalised seizures, refractory status epilepticus, ataxia, dementia and neuropsychiatric symptoms. It has a rapid malignant course with death in 4-8 years due to respiratory failure. Two common genetic form are known, 42% are caused by EPM2A and 58% EPM2B mutations. Recently mutations in an additional gene, PRDM8 which is responsible for early onset phenotype has been reported. Aim: To diagnose and determine the common Bangladeshi mutations in Lafora disease. Case report: Our case consists with a nineteen years old boy, born from a first degree consanguineous marriage with a younger brother suffering from similar illness. He showed severe progressive myoclonic epilepsy, ataxia and dementia. EEG showed generalised slowing with polyspike-wave complexes and MRI revealed mild cerebral atrophy. Genetic study confirmed the diagnosis of Lafora disease. Conclusion: This case is a Progressive Myoclonic Epilepsy of Lafora disease (LD) type with missense mutations in EPM2A gene. There are also mutations found in G6PD, GYS2 and GAA genes.
| Published in | Clinical Medicine Research (Volume 11, Issue 5) |
| DOI | 10.11648/j.cmr.20221105.12 |
| Page(s) | 126-129 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Progressive Myoclonic Epilepsy (PME), Ataxia, Dementia, Lafora Disease, EPM2A Mutations, G6PD Deficiency
| [1] | Berkovic SF, Andermann F, Carpenter S, Wolfe LS. Progressive myoclonus epilepsies: specific causes and diagnosis. N. Engl. J. Med. 1986; 315: 296-305. [PubMed: 3088452] doi: 10-1056/NEJM.198607313150506. |
| [2] | White JW Jr, Gomez MR. Diagnosis of Lafora disease by skin biopsy. J cutan Pathol. 1988; 15: 171-5. doi: https://doi.org/10.1111/j.1600- 0560.1988.tb00538.x |
| [3] | Minassian BA. Lafora’s disease: towards a clinical, pathologic, and molecular synthesis. Paediatr. Neurol. 2001; 25: 21-29. [PubMed: 11483392] doi: 10.1016/s0887. |
| [4] | 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: 106–111. [PubMed: 18256682] doi: 10.1038/ncpneuro0706. |
| [5] | Karimipour D, Lowe L, Blaivas M, Sachs D, Johnson TM. Lafora disease: Diagnosis by skin biopsy. J Am Acad Dermatol. 1999; 41 (5): 790–792. doi: 10.1016/s0190-9622 (99)70026-5. |
| [6] | Chan EM, Bulman DE, Paterson AD, et al. Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. J. Med. Genet. 2003a; 40: 671–675. [PubMed: 12960212] doi: 10.1684/epd.2016-0842. |
| [7] | Gomez-Garre P, Sanz Y, Rodriguez De Cordoba SR, Serratosa JM. Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. Eur. J. Hum. Genet. 2000; 8: 954. [PubMed: 11175283] doi: 10.1038/sj.ejhg.5200571. |
| [8] | Franceschetti S, Gambardella A, Canafoglia L, et al. Clinical and genetic findings in 26 Italian patients with Lafora disease. Epilepsia. 2006; 47: 640–643. [PubMed: 16529633] doi: 10.1111/j.1528-1167.2006.00479.x. |
| [9] | Turnbull J, Girard JM, Lohi H, et al. Early-onset Lafora body disease. Brain. 2012; 135: 2684–2698. [PubMed: 22961547] doi: 1093/brain/aws205. |
| [10] | Andrade DM, Ackerley CA, Minett TS, Teive HA, Bohlega S, Schere SW, et al. Skin biopsy in Lafora disease Genotype-phenotype correlations and diagnostic pitfalls. Neurology 2003; 61: 1611-4. doi: https://doi.org/10.1212/01.WNL.0000096017.19978.CB |
| [11] | Ianzano L, Zhang J, Chan EM, Zhao XC, Lohi H, Scherer SW, et al. Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes. Hum Mutat 2005; 26: 397. doi: 10.1002/humu.10306. |
| [12] | Gomez-Abad C, Gomez-Garre P, Gutierrez-Delicado E, et al. Lafora disease due to EPM2B mutations: a clinical and genetic study. Neurology. 2005; 64: 982–986. [PubMed: 15781812] doi: 10.1212/01.wnl.0000154519.10805.f7. |
| [13] | Delgado—Escueta AV, Bourgeois BF. Debate: Does genetic information in humans helps us to treat patients. CON—genetic information does not help at all. Epilepsia 2008; 49: 3-24 doi: 10.1111/j.1528-1167.2008.01922.x. |
| [14] | Dirani M, Nasreddine W, Abdulla F, Beydoun A. Seizure control and improvement of neurological dysfunction in Lafora disease with perampanel. Epilepsy Behav. Case Rep. 2014; 29 (2): 164–166. doi: 10.1016%2Fj.ebcr.2014.09.003. |
| [15] | Schorlemmer K, Bauer S, Belke M, et al. Sustained seizures remission in progressive myoclonic epilepsy (Lafora disease). Epilepsy Behav. Case Rep. 2013; 1: 118–121.[PubMed: 25667843] doi: 10.1016/j.ebcr.2013.07.00. |
APA Style
Mohammad Abul Kalam Azad, Mohammad Nazmul Hassan Chowdhury, Mohammad Abdullah Al Hasan, Mohammad Masum Emran, Panchanon Das, et al. (2022). Progressive Myoclonic Epilepsy: Lafora Disease - Clinical and Genetic Findings. Clinical Medicine Research, 11(5), 126-129. https://doi.org/10.11648/j.cmr.20221105.12
ACS Style
Mohammad Abul Kalam Azad; Mohammad Nazmul Hassan Chowdhury; Mohammad Abdullah Al Hasan; Mohammad Masum Emran; Panchanon Das, et al. Progressive Myoclonic Epilepsy: Lafora Disease - Clinical and Genetic Findings. Clin. Med. Res. 2022, 11(5), 126-129. doi: 10.11648/j.cmr.20221105.12
AMA Style
Mohammad Abul Kalam Azad, Mohammad Nazmul Hassan Chowdhury, Mohammad Abdullah Al Hasan, Mohammad Masum Emran, Panchanon Das, et al. Progressive Myoclonic Epilepsy: Lafora Disease - Clinical and Genetic Findings. Clin Med Res. 2022;11(5):126-129. doi: 10.11648/j.cmr.20221105.12
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Download@article{10.11648/j.cmr.20221105.12,
author = {Mohammad Abul Kalam Azad and Mohammad Nazmul Hassan Chowdhury and Mohammad Abdullah Al Hasan and Mohammad Masum Emran and Panchanon Das and Maher Akther},
title = {Progressive Myoclonic Epilepsy: Lafora Disease - Clinical and Genetic Findings},
journal = {Clinical Medicine Research},
volume = {11},
number = {5},
pages = {126-129},
doi = {10.11648/j.cmr.20221105.12},
url = {https://doi.org/10.11648/j.cmr.20221105.12},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cmr.20221105.12},
abstract = {Introduction: Progressive myoclonic epilepsies are group of genetic diseases with grave prognosis, consist of Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis, action myoclonus- renal failure syndrome, Myoclonus epilepsy and Ragged-Red Fibers (MERRF) and type III Gaucher disease. Lafora disease (LD) is an autosomal recessive severe form of progressive myoclonic epilepsy typically start in adolescence with severe myoclonus, other focal and generalised seizures, refractory status epilepticus, ataxia, dementia and neuropsychiatric symptoms. It has a rapid malignant course with death in 4-8 years due to respiratory failure. Two common genetic form are known, 42% are caused by EPM2A and 58% EPM2B mutations. Recently mutations in an additional gene, PRDM8 which is responsible for early onset phenotype has been reported. Aim: To diagnose and determine the common Bangladeshi mutations in Lafora disease. Case report: Our case consists with a nineteen years old boy, born from a first degree consanguineous marriage with a younger brother suffering from similar illness. He showed severe progressive myoclonic epilepsy, ataxia and dementia. EEG showed generalised slowing with polyspike-wave complexes and MRI revealed mild cerebral atrophy. Genetic study confirmed the diagnosis of Lafora disease. Conclusion: This case is a Progressive Myoclonic Epilepsy of Lafora disease (LD) type with missense mutations in EPM2A gene. There are also mutations found in G6PD, GYS2 and GAA genes.},
year = {2022}
}
TY - JOUR T1 - Progressive Myoclonic Epilepsy: Lafora Disease - Clinical and Genetic Findings AU - Mohammad Abul Kalam Azad AU - Mohammad Nazmul Hassan Chowdhury AU - Mohammad Abdullah Al Hasan AU - Mohammad Masum Emran AU - Panchanon Das AU - Maher Akther Y1 - 2022/09/16 PY - 2022 N1 - https://doi.org/10.11648/j.cmr.20221105.12 DO - 10.11648/j.cmr.20221105.12 T2 - Clinical Medicine Research JF - Clinical Medicine Research JO - Clinical Medicine Research SP - 126 EP - 129 PB - Science Publishing Group SN - 2326-9057 UR - https://doi.org/10.11648/j.cmr.20221105.12 AB - Introduction: Progressive myoclonic epilepsies are group of genetic diseases with grave prognosis, consist of Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis, action myoclonus- renal failure syndrome, Myoclonus epilepsy and Ragged-Red Fibers (MERRF) and type III Gaucher disease. Lafora disease (LD) is an autosomal recessive severe form of progressive myoclonic epilepsy typically start in adolescence with severe myoclonus, other focal and generalised seizures, refractory status epilepticus, ataxia, dementia and neuropsychiatric symptoms. It has a rapid malignant course with death in 4-8 years due to respiratory failure. Two common genetic form are known, 42% are caused by EPM2A and 58% EPM2B mutations. Recently mutations in an additional gene, PRDM8 which is responsible for early onset phenotype has been reported. Aim: To diagnose and determine the common Bangladeshi mutations in Lafora disease. Case report: Our case consists with a nineteen years old boy, born from a first degree consanguineous marriage with a younger brother suffering from similar illness. He showed severe progressive myoclonic epilepsy, ataxia and dementia. EEG showed generalised slowing with polyspike-wave complexes and MRI revealed mild cerebral atrophy. Genetic study confirmed the diagnosis of Lafora disease. Conclusion: This case is a Progressive Myoclonic Epilepsy of Lafora disease (LD) type with missense mutations in EPM2A gene. There are also mutations found in G6PD, GYS2 and GAA genes. VL - 11 IS - 5 ER -
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