Results 41 to 50 of about 845 (152)

Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity

Neurobiology of Disease, 2021
.Lafora disease (LD) is a fatal adolescence-onset neurodegenerative condition. The hallmark of LD is the accumulation of aberrant glycogen aggregates called Lafora bodies (LBs) in the brain and other tissues.
Olga Varea, Jordi Duran, Mònica Aguilera, Neus Prats, Joan J. Guinovart   +4 more
doaj   +1 more source

Lafora Disease: A Ubiquitination-Related Pathology

Cells, 2018
Lafora disease (LD, OMIM254780) is a rare and fatal form of progressive myoclonus epilepsy (PME). Among PMEs, LD is unique because of the rapid neurological deterioration of the patients and the appearance in brain and peripheral tissues of insoluble ...
Maria Adelaida García-Gimeno, Erwin Knecht, Pascual Sanz   +2 more
doaj   +1 more source

Lafora Disease in a Teenage Girl with Epilepsy

GAIMS Journal of Medical Sciences
Lafora disease is rare group of progressive myoclonic epilepsies, worldwide. It is more common in children and adolescents and is genetic, glycogen metabolism disorder. It has Autosomal recessive (AR) inheritance.
Bhushan Warpe, Shweta Joshi, Vishva Sureja   +2 more
doaj   +1 more source

Laforin, a dual specificity phosphatase involved in Lafora disease, is present mainly as monomeric form with full phosphatase activity.

PLoS ONE, 2011
Lafora Disease (LD) is a fatal neurodegenerative epileptic disorder that presents as a neurological deterioration with the accumulation of insoluble, intracellular, hyperphosphorylated carbohydrates called Lafora bodies (LBs).
Vikas V Dukhande, Devin M Rogers, Carlos Romá-Mateo, Jordi Donderis, Alberto Marina, Adam O Taylor, Pascual Sanz, Matthew S Gentry   +7 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Myoclonus epilepsy with cerebellar Lafora bodies: Report of a case [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1976
A case is reported of an 18 year old man with progressive myoclonus epilepsy. Histopathological examination revealed the presence of numerous Lafora bodies in the cerebellar granular layer, without other significant changes in the central nervous system or in other organs.
R, Scelsi, G L, Mazzella, M, Lombardi
openaire   +2 more sources

Doença de Lafora: Uma possibilidade diagnóstica das demências juvenis Lafora's disease: a possible diagnosis of juvenile dementia

Arquivos de Neuro-Psiquiatria, 1995
Cinco casos de doença de Lafora são relatados, dando-se ênfase à sequência de eventos clínicos que permitiram a suspeita do diagnóstico e o posterior método de comprovação através de exames histopatológicos da pele e fígado.
Elza Dias-Tosta, Lea Fátima Vieira, Adriana Alves, Helcio L. Miziara   +3 more
doaj   +1 more source

Young-onset Alzheimer’s dementia mimicking progressive myoclonic epilepsy spectrum

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023
Background Young-onset Alzheimer’s dementia (YOAD) refers to the onset of disease before the age of 40 years. Classical AD typically presents with memory impairment with involvement of other cognitive domains like language, visuospatial orientation.
Rohan Mahale, Gautam Arunachal, Debayan Dutta, N. Venkatachalam, Hansashree Padmanabha   +4 more
doaj   +1 more source

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

Cell Reports, 2019
Summary: Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood.
Mitchell A. Sullivan, Silvia Nitschke, Evan P. Skwara, Peixiang Wang, Xiaochu Zhao, Xiao S. Pan, Erin E. Chown, Travis Wang, Ami M. Perri, Jennifer P.Y. Lee, Francisco Vilaplana, Berge A. Minassian, Felix Nitschke   +12 more
doaj   +1 more source