Results 81 to 90 of about 1,886 (182)

Polyglucosan Body Structure in Lafora Disease

, 2020
Abnormal carbohydrate structures known as polyglucosan bodies (PGBs) are associated with neurodegenerative disorders, glycogen storage diseases (GSDs), and aging.
Rondon, Alberto, Uittenbogaard, Annette, Uittenbogaard, Annette M., Gentry, Matthew S., Putaux, Jean-Luc, Sullivan, Mitchell A., Brewer, M. Kathryn, Gentry, Matthew, Sullivan, Mitchell   +8 more
core   +1 more source

Conservation of the glucan phosphatase laforin is linked to rates of molecular evolution and the glucan metabolism of the organism

BMC Evolutionary Biology, 2009
Background Lafora disease (LD) is a fatal autosomal recessive neurodegenerative disease. A hallmark of LD is cytoplasmic accumulation of insoluble glucans, called Lafora bodies (LBs). Mutations in the gene encoding the phosphatase laforin account for ~50%
Pace Rachel M, Gentry Matthew S
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

Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease [PDF]

, 2014
BACKGROUND: Lafora disease is an autosomal recessive form of progressive myoclonic epilepsy caused by defects in the EPM2A and EPM2B genes. Primary symptoms of the pathology include seizures, ataxia, myoclonus, and progressive development of severe ...
Carlos Spuch, Vieitez González, Irene, Ortolano, Saida, Roberto Agis-Balboa, Irene Vieitez, Saida Ortolano, Agis Balboa, Roberto Carlos, Spuch Calvar, Carlos   +7 more
core   +1 more source

Lafora disease due to EPM2B mutations - A clinical and genetic study

, 2005
Objective: To study EPM2B gene mutations and genotype-phenotype correlations in patients with Lafora disease. Methods: The authors performed a clinical and mutational analysis of 25 patients, from 23 families, diagnosed with Lafora disease who had not ...
de Cordoba, SR, Gomez-Garre, P, Tassinari, CA, Saygi, SERAP, Michelucci, R, Gomez-Abad, C, Gutierrez-Delicado, E, Serratosa, JM   +7 more
core   +2 more sources

Three Patients With Lafora Disease: Different Clinical Presentations and a Novel Mutation

, 2015
Lafora disease is a rare, fatal, autosomal recessive hereditary disease characterized by epilepsy, myoclonus and progressive neurological deterioration. Diagnosis is made by polyglucosan inclusion bodies (Lafora bodies) shown in skin biopsy.
Kumandas, Sefer, Gumus, Hakan, Onay, Huseyin, Özkınay, Ferda, Poyrazoglu, Hatice Gamze, Canoz, Ozlem, Canpolat, Mehmet, Per, Huseyin, Karaca, Emin, Ozkinay, Ferda   +9 more
core   +1 more source

Lafora Disease Masquerading as Hepatic Dysfunction

, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Ali, Nouman Safdar, Khan, Zarak H., Abdullah, Hafez Mohammad A., Inayat, Faisal, Ullah, Waqas, Ilyas, Ghulam, Lodhi, Hanan T.   +6 more
core  

Lafora Disease as a Cause of Epilepsy in Dogs

, 2013
Lafora disease is an autosomal recessive neurodegenerative disease described first by Lafora and Glück in 1911. The typical symptom of Lafora disease is the accumulation of intracellular polyglucosan bodies, among others in the nervous tissue, more ...
Yasin, Inam Rakel
core  

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Lafora and Trétiakoff: the naming of the inclusion bodies discovered by Lewy

Arquivos de Neuro-Psiquiatria
Fritz Heinrich Jakob Lewy described, for the first time, in 1912, novel peculiar inclusions in neurons of certain brain nuclei in patients with Paralysis agitans, and compared his finding to the amyloid bodies described by Lafora one year before. Gonzalo
Eliasz Engelhardt
doaj   +1 more source