Results 61 to 70 of about 62,774 (200)

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 ...
Agis Balboa, Roberto Carlos, Ortolano, Saida, Spuch Calvar, Carlos, Vieitez González, Irene   +3 more
core   +1 more source

Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS)

European Journal of Neurology, Volume 32, Issue 1, January 2025.
Abstract Background Monoclonal gammopathy (MG) has been reported in association with numerous neurological disorders but the spectrum of MG‐associated myopathies remains poorly described. Objective To report a newly acquired myopathy associated with MG.
Katia Staedler, Yves Allenbach, Emmanuelle Salort‐Campana, Edoardo Malfatti, Aude Rigolet, Shahram Attarian, André Maues de Paula, Sarah Léonard‐Louis, Olivier Benveniste, Tanya Stojkovic   +9 more
wiley   +1 more source

Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease

Neurology, 2017
A 48-year-old man of Ashkenazi Jewish descent developed neurogenic bladder and mild cognitive dysfunction. Neurologic examination and CSF analysis were unremarkable.
A. S. Lopez Chiriboga
semanticscholar   +2 more sources

RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature [PDF]

, 2020
In this article, we report four new patients, from three kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterised by widespread polyglucosan storage.
Amer, H, Ashworth, M, Bodi, I, Hedberg-Oldfors, C, Jovanovic, A, Jungbluth, H, King, A, Lowe, DM, Merwick, A, Murphy, E, Nakou, V, Novelli, M, Oldfors, A, Phadke, R, Roberts, M, Scalco, RS, Sofat, R, Sugarman, M, Vara, R   +18 more
core  

Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora disease [PDF]

, 2020
Lafora disease (LD), the most devastating adolescence‐onset epilepsy, is caused by mutations in the EPM2A or EPM2B genes, which encode the proteins laforin and malin, respectively.
Augé Marí, Elisabet, Cabezón Rodríguez, Itsaso, Duran, Jordi, Guinovart, Joan J. (Joan Josep), 1947-, Manich Raventós, Gemma, Pelegrí i Gabaldà, Carme, Vilaplana i Hortensi, Jordi   +6 more
core   +1 more source

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

, 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.
Aguilera, Mònica, Duran, Jordi, Guinovart, Joan J. (Joan Josep), 1947-, Prats, Neus, Varea, Olga   +4 more
core   +1 more source

Temporopolar blurring signifies abnormalities of white matter in mesial temporal lobe epilepsy

Annals of Clinical and Translational Neurology, Volume 11, Issue 11, Page 2932-2945, November 2024.
Abstract Objective The single‐center retrospective cohort study investigated underlying pathogenic mechanisms and clinical significance of patients with temporal lobe epilepsy and hippocampal sclerosis (TLE‐HS), in the presence/absence of gray–white matter abnormalities (usually called “blurring”; GMB) in ipsilateral temporopolar region (TPR) on MRI ...
Yuming Li, Peiwen Liu, Qiuxing Lin, Wei Li, Yingying Zhang, Jinmei Li, Xiuli Li, Qiyong Gong, Heng Zhang, Luying Li, Xiutian Sima, Danyang Cao, Xiang Huang, Kailing Huang, Dong Zhou, Dongmei An   +15 more
wiley   +1 more source

PRE-CLINICAL ADVANCEMENTS IN BIOMARKERS, TOOLS, AND THERAPEUTICS FOR A METABOLIC NEURODEGENERATIVE DISEASE [PDF]

, 2021
Glycogen is the storage form of glucose and a highly important substrate for cellular metabolism. Characterization of the enzymes and mechanisms of glycogen metabolism began over 70 years ago and over the last 20 years, a previously unknown protein ...
Simmons, Zoë
core   +1 more source

Astrocytic glycogen accumulation drives the pathophysiology of neurodegeneration in Lafora disease [PDF]

, 2021
The hallmark of Lafora disease, a fatal neurodegenerative disorder, is the accumulation of intracellular glycogen aggregates, called Lafora bodies. Until recently, it was widely believed that brain Lafora bodies were present exclusively in neurons and ...
Duran, Jordi, Gentry, Matthew S., Guinovart, Joan J. (Joan Josep), 1947-, Hervera Abad, Arnau, López Soldado, Iliana, Markussen, Kia H., Río Fernández, José Antonio del, Sun, Ramon C., Varea, Olga   +8 more
core   +1 more source

What can pediatricians learn from adult inherited metabolic diseases?

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 876-884, September 2024.
Abstract The field of inherited metabolic diseases (IMD) has initially emerged and developed over decades in pediatric departments. Still, today, about 50% of patients with IMD are adults, and adult metabolic medicine (AMM) is getting more structured at national and international levels.
Fanny Mochel
wiley   +1 more source