Results 21 to 30 of about 583 (101)

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

Emerging Role of Neuron‐Glia in Neurological Disorders: At a Glance

Oxidative Medicine and Cellular Longevity, Volume 2022, Issue 1, 2022., 2022
Based on the diverse physiological influence, the impact of glial cells has become much more evident on neurological illnesses, resulting in the origins of many diseases appearing to be more convoluted than previously happened. Since neurological disorders are often random and unknown, hence the construction of animal models is difficult to build ...
Md. Mominur Rahman, Md. Rezaul Islam, Md. Yamin, Md. Mohaimenul Islam, Md. Taslim Sarker, Atkia Farzana Khan Meem, Aklima Akter, Talha Bin Emran, Simona Cavalu, Rohit Sharma, Chan-Yen Kuo   +10 more
wiley   +1 more source

Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report

Kaohsiung Journal of Medical Sciences, 2009
We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood.
Chih-Fan Tseng, Che-Sheng Ho, Nan-Chang Chiu, Shuan-Pei Lin, Chi-Yuan Tzen, Yu-Hung Wu   +5 more
doaj   +1 more source

A retrospective case series of clinical signs in 28 Beagles with Lafora disease

Journal of Veterinary Internal Medicine, Volume 35, Issue 5, Page 2359-2365, September/October 2021., 2021
Abstract Background Clinical signs and their progression in Beagles with Lafora disease are poorly described. Objectives To describe clinical signs in Beagles with Lafora disease. Animals Twenty‐eight Beagles with Lafora disease confirmed by genetic testing or histopathology. Methods Retrospective multicenter case series.
Thomas Flegel, Marion Kornberg, Franziska Mühlhause, Sophie Neumann, Andrea Fischer, Franziska Wielaender, Florian König, Akos Pakozdy, Pia R. Quitt, Andrea M. Trapp, Konrad Jurina, Frank Steffen, Kai W. Rentmeister, Cornelia Flieshardt, Josephine Dietzel   +14 more
wiley   +1 more source

Genotypes and phenotypes of patients with Lafora disease living in Germany

Neurological Research and Practice, 2019
Background Lafora progressive myoclonus epilepsy (Lafora disease) is a rare, usually childhood-onset, fatal neurodegenerative disease caused by biallelic mutations in EPM2A (Laforin) or EPM2B (NHLRC1; Malin). The epidemiology of Lafora disease in Germany
David Brenner, Tobias Baumgartner, Sarah von Spiczak, Jan Lewerenz, Roger Weis, Anja Grimmer, Petra Gaspirova, Claudia D. Wurster, Wolfram S. Kunz, Jan Wagner, Berge A. Minassian, Christian E. Elger, Albert C. Ludolph, Saskia Biskup, Dennis Döcker   +14 more
doaj   +1 more source

Two Cases of Lafora Disease Diagnosed By Genetical Tests

Archives of Epilepsy, 2021
Epilepsy develops related to a complex genetic heredity as many diseases in society. Lafora disease (LD) is an autosomal recessive inheritance. It is localized at EPM2A gen 6q23-25 and encodes tyrosine phosphatase (Laforin protein).
Aylin BICAN DEMIR, Ibrahim HAKKI BORA
doaj   +1 more source

Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin. [PDF]

PLoS ONE, 2009
BackgroundLafora progressive myoclonus epilepsy (Lafora disease; LD) is a fatal autosomal recessive neurodegenerative disorder caused by loss-of-function mutations in either the EPM2A gene, encoding the dual specificity phosphatase laforin, or the EPM2B ...
Santiago Vernia, Teresa Rubio, Miguel Heredia, Santiago Rodríguez de Córdoba, Pascual Sanz   +4 more
doaj   +1 more source

Lafora disease: A case report, pathologic and genetic study

Indian Journal of Pathology and Microbiology, 2011
A 19-year-old male patient presented with progressive myoclonic seizures and speech disorder. The patient had photosensitivity, a few episodes of sudden transient blindness, and infrequent complex visual auras, dysarthria and mild ataxia, frequent ...
M H Harirchian, E Esmailee Shandiz, J Turnbull, B A Minassian, R Shahsiah   +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

Are c.436G>A mutations less severe forms of Lafora disease? A case report

Epilepsy and Behavior Case Reports, 2014
Lafora disease is a form of progressive myoclonic epilepsy with autosomal recessive transmission. Two genes have been identified so far: EPM2A and NHLRC1, and a third gene, concerning a pediatric onset subform, has been recently proposed.
Hélène-Marie Lanoiselée, Pierre Genton, Gaetan Lesca, Florence Brault, Bertrand De Toffol   +4 more
doaj   +1 more source