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Journals / Journal of Neurological Sciences (Turkish) / 2016 / Cilt: 33 - Sayı: 1

Down Sendromunda Geç Başlangıçlı Miyoklonik Epilepsi: İki Olguda EPM1 Gen Mutasyonunun Araştırılması

Late-Onset Myoclonic Epilepsy in Down Syndrome: Investigation of EPM1 Gene Mutations in two Cases

Hande ÇAĞLAYAN
Ebru ALTINDAĞ
Sunay USLUER
Asli GUNDOGDU
Ebru Nur YAVUZ VANLI
Betül BAYKAN
Özlem Güngör TUNCER
Pages
132–137
Publication Date
2022-10-19
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Our study did not show any mutations of EPM1 gene on chromosome 21 but these findings could not exclude a shared genetic mechanism in these syndromes

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Late-onset myoclonic epilepsy is being increasingly recognized as a late complication in elderly patients with Down syndrome (DS) in association with cognitive decline.
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Key Findings & Data:This specific syndrome bears some broad clinical and EEG similarities to the progressive myoclonic epilepsies, particularly Unverricht-Lundborg disease (ULD).
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Conclusion & Impact:Our study did not show any mutations of EPM1 gene on chromosome 21 but these findings could not exclude a shared genetic mechanism in these syndromes
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Late-onset myoclonic epilepsy is being increasingly recognized as a late complication in elderly patients with Down syndrome (DS) in association with cognitive decline. This specific syndrome bears some broad clinical and EEG similarities to the progressive myoclonic epilepsies, particularly Unverricht-Lundborg disease (ULD). Our aim was to investigate a possible shared patho-genetic mechanism for clinico-physiological similarities in these different genetic syndromes. Two patients diagnosed with DS and late-onset myoclonic epilepsy were included in the study. Dodecamer repeats and other possible CSTB gene mutations were investigated after isolation of DNA from their blood samples. No dodecamer repeats and point mutations could be found. Our study did not show any mutations of EPM1 gene on chromosome 21 but these findings could not exclude a shared genetic mechanism in these syndromes

Özet

İleri yaştaki Down Sendromlu (DS) olgularda geç bir komplikasyon olarak kognitif yıkımla ilişkili ortaya çıkan geç başlangıçlı miyoklonik epilepsinin varlığı giderek dikkati çekmektedir. Bu özgün sendrom progresif miyoklonik epilepsiler ve özellikle UnverrichtLundborg hastalığının bazı genel klinik ve EEG özellikleri ile benzerlikler göstermektedir. Amacımız klinik ve elektrofizyolojik benzerlikler gösteren bu farklı genetik sendromlarda olası ortak patogenetik mekanizmaları araştırmaktır. DS tanılı ve geç ortaya çıkan miyoklonik epilepsili iki hasta bu çalışmaya dahil edildi. Kan örneklerinden DNA izolasyonları yapıldıktan sonra dodekamer tekrarları ve diğer olası CSBT gen mutasyonları araştırıldı. Araştırılan dodekamer tekrarı ve nokta mutasyonları olgularda saptanmadı. Çalışmamız kromozom 21'deki EPM1 geninde herhangi bir mutasyon saptamamış olsa da bu iki hastalığın ortak genetik mekanizması olduğunu dışlamamaktadır

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Cite This Article

ÇAĞLAYAN, H., ALTINDAĞ, E., USLUER, S., GUNDOGDU, A., VANLI, E. N. Y., BAYKAN, B., TUNCER, Ö. G. (2022). Down Sendromunda Geç Başlangıçlı Miyoklonik Epilepsi: İki Olguda EPM1 Gen Mutasyonunun Araştırılması. Journal of Neurological Sciences (Turkish), Cilt: 33 - Sayı: 1, 132–137. https://ajindex.com/articles/564870

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References (8)

  1. Aller-Alvarez JS, Menéndez-González M, Ribacoba- Montero R, Salvado M,Vega V, Suárez-Moro R, Sueiras M, Toledo M, Salas-Puig J, Álvarez-Sabin J. Myoclonic epilepsy in Down Syndrome and Alzheimer disease. Neuologia 2015; 2:1-5.
  2. Auvin S, Derambure P, Cassim F, Vallée L. Myoclonus and epilepsy: diagnosis and pathophysiology. Rev Neurol 2008;164:3-11.
  3. Bartolomei F, Bureau M, Paglia G, Genton P, Roger J. Myoclonus of focal action and localized hemispheric lesion. A polygrahic and pharmacological study. Rev Neurol 1995;151:311- 315. De Simone R, Daquin G, Genton P. Senile myoclonic epilepsy in Down Syndrome: a video and EEG presentation of two cases. Epileptic Disord 2006;8(3):223-227.
  4. Genton P, Paglia G. Epilepsie myoclonique senile? Myoclonies d'apparition tardive dans le syndrome de Down. Epilepsies 1994;1:5-11. Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E. Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia 2008;49:549-556. Kemper TL. Neuropathology of Down Syndrome. In: Nadel L, eds: The Psychopatology of Down Syndrome. Cambridge, Mass, MIT Press, 1988, pp 269-289.
  5. Lefter S, Costello DJ, McNamara B, Sweeney B. Clinical and EEG features of seizures in adults with Down Syndrome. J Clin Neurophysiol 2011;28:469- 473. Li LM, O'Donoghue MF, Sander JW. Myoclonic epilepsy of late onset in trisomy 21. Arq Neuropsychiatr 1995;53:792-794. Mann DM. Association between Alzheimer's disase and Down syndrome: neuropathological observations. In: Berg JM, Karlinsky H, Holland AJ, eds: Alzheimer Disease, Down Syndrome, and their relationship. New York, Oxford University Press, 1993, pp 72. Möller JC, Hamer HM, Oertel WH, Rosenow F. Late-onset myoclonic epilepsy in Down's syndrome (LOMEDS). Seizure 2001;10:303-306.
  6. Sangani M, Shahid A, Amina S, Koubeissi M. Improvement of myoclonic epilepsy in Down syndrome treated with levetiracetam. Epileptic Disord 2010;12(2):151-154.
  7. Schupf N, Sergievsky GH. Genetic and host factors for dementia in Down's syndrome. Br J Psychiatry 2002;180:405-410. Schweber MS. Alzheimer's Disease and Down syndrome. Prog Clin Biol Res 1989;317:247-267.
  8. Sisodia SS, St George-Hyslop PH. Gamma- secretase, Notch, Abeta and Alzheimer's disease: where do the presenilins fit in? Nat Rev Neurosci 2002;3: 281-290. Veall RM. The prevalence of epilepsy among mongols related to age. J Ment Def Res 1974;18:99- 106.