Lafora body disease

2006 ◽  
pp. 56-57
Keyword(s):  
Lafora Body

scholarly journals Progressive Myoclonic Epilepsy: Review Article with A Case Report of Lafora Disease

2018 ◽  
Vol 42 (3) ◽  
pp. 138-147
Author(s):  
Selina Husna Banu ◽  
Mashaya Zaman Koli
Keyword(s):  
Autosomal Recessive ◽  
Early Stage ◽  
Clinical History ◽  
Genetic Mutation ◽  
Myoclonic Epilepsy ◽  
Epilepsy Syndrome ◽  
Lafora Disease ◽  
Clinical Criteria ◽  
Lafora Body ◽  
Progressive Myoclonic Epilepsy

Progressive myoclonic epilepsy (PME) is an autosomal recessive, apparently a rare complex epilepsy syndrome. Among different types of PME, lafora body disease is more quickly progressive usually fatal within 2nd and 3rd decade. They are characterized by childhood or adolescent onset difficult to control multiple type seizures including myoclonous, generalized tonic clonic, absences, psychomotor regression with ataxia, dementia, dysarthria, visual hallucinations, and other general features. Early suspicion is important that leads to the rational diagnostic workout. The electro-clinical criteria would help a lot to exclude the benign epilepsy syndrome such as juvenile myoclonic epilepsy (JME) and suspect PME at the early stage of the complex epilepsy syndrome. Diagnosis is further clarified and confirmed by finding lafora body in skin and genetic study. Genetic mutation found in more than 87% cases in EPM2A gene or the EPM2B also known as NHLRC1 gene and are inherited in an autosomal recessive manner. EMP2A gene is located on chromosome 6q24. They are reported from Mediterranean basin, central Asia, India, Pakistan, northern Africa and Middle East where consanguineous marriage is common. We report a diagnosed case for the first time in Bangladesh. With the detail clinical history, rational use of the available investigation tools and clinical suspicion, diagnosis of the disorder at its early stage is possible. The rapid progress in genetic therapy would be a great hope in near future. Bangladesh J Child Health 2018; VOL 42 (3) :138-147

Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease

2010 ◽  
Vol 89 (2-3) ◽  
pp. 232-237 ◽  
Author(s):  
Laura Canafoglia ◽  
Claudia Ciano ◽  
Elisa Visani ◽  
Paola Anversa ◽  
Ferruccio Panzica ◽  
...  
Keyword(s):  
Cortical Inhibition ◽  
Lafora Body

scholarly journals Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease

2021 ◽  
Author(s):  
Saija Ahonen ◽  
Silvia Nitschke ◽  
Tamar R. Grossman ◽  
Holly Kordasiewicz ◽  
Peixiang Wang ◽  
...  
Keyword(s):  
Antisense Oligonucleotide ◽  
Glycogen Synthase ◽  
Lafora Disease ◽  
Neuroinflammatory Response ◽  
Glycogen Accumulation ◽  
Body Formation ◽  
Lafora Bodies ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy ◽  
Lafora Body

AbstractLafora disease is a fatal progressive myoclonus epilepsy. At root, it is due to constant acquisition of branches that are too long in a subgroup of glycogen molecules, leading them to precipitate and accumulate into Lafora bodies, which drive a neuroinflammatory response and neurodegeneration. As a potential therapy, we aimed to downregulate glycogen synthase, the enzyme responsible for glycogen branch elongation, in the disease’s mouse models. We synthesized an antisense oligonucleotide (Gys1-ASO) that targets the mRNA of the brain-expressed glycogen synthase 1 gene (Gys1). We administered Gys1-ASO by intracerebroventricular injection and analyzed the pathological hallmarks of Lafora disease, namely glycogen accumulation, Lafora body formation, and neuroinflammation. Gys1-ASO prevented Lafora body formation in young mice that had not yet formed them. In older mice that already exhibited Lafora bodies, Gys1-ASO inhibited further accumulation, markedly preventing large Lafora bodies characteristic of advanced disease. Inhibition of Lafora body formation was associated with prevention of astrogliosis and strong trends towards correction of dysregulated expression of disease immune and neuroinflammatory markers. Lafora disease manifests gradually in previously healthy teenagers. Our work provides proof of principle that an antisense oligonucleotide targeting the GYS1 mRNA could prevent, and halt progression of, this catastrophic epilepsy.

scholarly journals AN AUTOPSY CASE OF MYOCLONUS EPILEPSY (LAFORA-BODY TYPE)

1978 ◽  
Vol 28 (6) ◽  
pp. 443-450
Author(s):  
HIROSHI NAKAYAMA ◽  
SUSUMU YOKOI ◽  
TATSUO NEGISHI
Keyword(s):  
Autopsy Case ◽  
Body Type ◽  
Myoclonus Epilepsy ◽  
Lafora Body

Lafora Body-Like Inclusions in a Case of Progressive Myoclonic Ataxia Associated with Coeliac Disease

2001 ◽  
Vol 46 (3) ◽  
pp. 157-158 ◽  
Author(s):  
E. Tüzün ◽  
C. Gürses ◽  
B. Baykan ◽  
N. Büyükbabani ◽  
A.S. Öztürk ◽  
...  
Keyword(s):  
Coeliac Disease ◽  
Lafora Body

Managing Lafora body disease with vagal nerve stimulation

2017 ◽  
Vol 19 (1) ◽  
pp. 82-86 ◽  
Author(s):  
Mohamad A. Mikati ◽  
Faysal Tabbara
Keyword(s):  
Nerve Stimulation ◽  
Vagal Nerve ◽  
Vagal Nerve Stimulation ◽  
Lafora Body
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