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Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Riva A, Orsini A, Scala M, Taramasso V, Canafoglia L, d'Orsi G, Di Claudio MT, Avolio C, D'Aniello A, Elia M, Franceschetti S, Di Gennaro G, Bisulli F, Tinuper P, Tappatà M, Romeo A, Freri E, Marini C, Costa C, Sofia V, Ferlazzo E, Magaudda A, Veggiotti P, Gennaro E, Pistorio A, Minetti C, Bianchi A, Striano S, Michelucci R, Zara F, Minassian BA, Striano P; Italian League Against Epilepsy Genetic Commission. Riva A, et al. J Neurol Sci. 2021 May 15;424:117409. doi: 10.1016/j.jns.2021.117409. Epub 2021 Mar 20. J Neurol Sci. 2021. PMID: 33773408 Free PMC article.
BACKGROUND: Lafora disease (LD) is characterized by progressive myoclonus, refractory epilepsy, and cognitive deterioration. ...A slower disease progression with preserved ambulation and speech after 4 years of follow-up was observed in 1 (11%) out of the 9 ( …
BACKGROUND: Lafora disease (LD) is characterized by progressive myoclonus, refractory epilepsy, and cognitive deterioration. . …
The multifaceted roles of the brain glycogen.
Markussen KH, Corti M, Byrne BJ, Vander Kooi CW, Sun RC, Gentry MS. Markussen KH, et al. J Neurochem. 2024 May;168(5):728-743. doi: 10.1111/jnc.15926. Epub 2023 Aug 9. J Neurochem. 2024. PMID: 37554056 Review.
Key insights into how cellular localization impacts neuronal and glial function are discussed. Perturbed glycogen functions are observed in multiple disorders of the brain, including where it serves as a disease driver in the emerging category of neurological glycogen stor …
Key insights into how cellular localization impacts neuronal and glial function are discussed. Perturbed glycogen functions are observed …
Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.
Burgos DF, Cussó L, Sánchez-Elexpuru G, Calle D, Perpinyà MB, Desco M, Serratosa JM, Sánchez MP. Burgos DF, et al. Int J Mol Sci. 2020 Oct 20;21(20):7771. doi: 10.3390/ijms21207771. Int J Mol Sci. 2020. PMID: 33092303 Free PMC article.
Mutations in the EPM2A and EPM2B genes, encoding laforin and malin proteins respectively, are responsible for Lafora disease, a fatal form of progressive myoclonus epilepsy with autosomal recessive inheritance. ...These data may provide new insights into disease mec …
Mutations in the EPM2A and EPM2B genes, encoding laforin and malin proteins respectively, are responsible for Lafora disease, …
Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy.
Acharya JN, Acharya VJ. Acharya JN, et al. J Clin Neurophysiol. 2023 Feb 1;40(2):100-108. doi: 10.1097/WNP.0000000000000913. Epub 2022 Jun 30. J Clin Neurophysiol. 2023. PMID: 36735458
Some patients with JME may be refractory to anti-seizure medications and attempts have been made to identify neurophysiological biomarkers predicting resistance. Progressive myoclonic epilepsy is a syndrome with multiple specific causes. ...This article provides an overvie …
Some patients with JME may be refractory to anti-seizure medications and attempts have been made to identify neurophysiological biomarkers …
Brain glycogen in health and disease.
Duran J, Guinovart JJ. Duran J, et al. Mol Aspects Med. 2015 Dec;46:70-7. doi: 10.1016/j.mam.2015.08.007. Epub 2015 Sep 5. Mol Aspects Med. 2015. PMID: 26344371 Review.
However, these cells can store only minute amounts of glycogen, since the progressive accumulation of this molecule leads to neuronal loss. Loss-of-function mutations in laforin and malin cause Lafora disease. This condition is characterized by the presence of high …
However, these cells can store only minute amounts of glycogen, since the progressive accumulation of this molecule leads to neuronal loss. …
Glycogen in Astrocytes and Neurons: Physiological and Pathological Aspects.
Duran J, Gruart A, López-Ramos JC, Delgado-García JM, Guinovart JJ. Duran J, et al. Adv Neurobiol. 2019;23:311-329. doi: 10.1007/978-3-030-27480-1_10. Adv Neurobiol. 2019. PMID: 31667813 Free PMC article. Review.
While the formation of glycogen aggregates clearly underlies epilepsy, as in Lafora Disease (LD), the absence of glycogen also favors the occurrence of seizures.LD is a rare genetic condition that affects children. ...However, the appearance and composition of these …
While the formation of glycogen aggregates clearly underlies epilepsy, as in Lafora Disease (LD), the absence of glycogen also …
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Ferlazzo E, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F, Minassian BA, Turnbull J, Serratosa JM, Guerrero-López R, Franceschetti S, Aguglia U. Ferlazzo E, et al. Epilepsia. 2014 Dec;55(12):e129-33. doi: 10.1111/epi.12806. Epub 2014 Sep 30. Epilepsia. 2014. PMID: 25270369 Free article.
We report clinical, neurophysiologic, and genetic features of an Italian series of patients with Lafora disease (LD) to identify distinguishing features of those with a slowly progressive course. ...Six of 23 patients were mild and presented significantly delay in t …
We report clinical, neurophysiologic, and genetic features of an Italian series of patients with Lafora disease (LD) to identi …
Clinical and genetic studies in patients with Lafora disease from Pakistan.
Ahmad A, Dad R, Ullah MI, Baig TA, Ahmad IN, Nasir A, Hübner CA, Hassan MJ. Ahmad A, et al. J Neurol Sci. 2017 Feb 15;373:263-267. doi: 10.1016/j.jns.2017.01.010. Epub 2017 Jan 4. J Neurol Sci. 2017. PMID: 28131202
Lafora disease (LD) is progressive myoclonic epilepsy with late childhood- to teenage-onset. ...Diagnosis of Lafora disease was made on histo-pathological analysis of the skin biopsy, found positive for lafora bodies in periodic acid schiff stain and f …
Lafora disease (LD) is progressive myoclonic epilepsy with late childhood- to teenage-onset. ...Diagnosis of Lafora …
Biochemical and clinical aspects of glycogen storage diseases.
Ellingwood SS, Cheng A. Ellingwood SS, et al. J Endocrinol. 2018 Sep;238(3):R131-R141. doi: 10.1530/JOE-18-0120. Epub 2018 Jun 6. J Endocrinol. 2018. PMID: 29875163 Free PMC article. Review.
Disruptions in glycogen metabolism usually result in some level of dysfunction in the liver, muscle, heart, kidney and/or brain. Furthermore, the spectrum of symptoms observed is very broad, depending on the affected enzyme. Finally, we briefly discuss an aspect of glycoge …
Disruptions in glycogen metabolism usually result in some level of dysfunction in the liver, muscle, heart, kidney and/or brain. Furthermore …
Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin.
Kecmanović M, Jović N, Keckarević-Marković M, Keckarević D, Stevanović G, Ignjatović P, Romac S. Kecmanović M, et al. Clin Genet. 2016 Jan;89(1):104-8. doi: 10.1111/cge.12570. Epub 2015 Mar 19. Clin Genet. 2016. PMID: 25683376
Lafora disease (LD) is an autosomal recessive, progressive disorder characterized by myoclonus and seizures, inexorable neurologic deterioration, cognitive decline and poor prognosis. ...The two predominant mutations (c.1048-1049delGA and complete NHLRC1 gene deleti …
Lafora disease (LD) is an autosomal recessive, progressive disorder characterized by myoclonus and seizures, inexorable neurol …
61 results