Results 51 to 60 of about 9,468,531 (154)

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

Corpora Amylacea and Unexpected Death: A Case of Adult Polyglucosan Body Disease Diagnosed at Forensic Autopsy

, 2012
Adult polyglucosan body disease (APBD) is a rare neurodegenerative condition characterized by typical onset in middle age, progressive neurological impairment that is heterogeneous between cases, and death within 1-14 years of diagnosis.
R. Ross Reichard, Timothy L. Williams
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

Table1_Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.DOCX

, 2023
Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1.
Wladimir Bocca Viera De Rezende Pinto (17662809), Matthew M. Gayed (17662803), Paulo Sgobbi (17662806), Rebecca L. Koch (13777501), Priya S. Kishnani (9214091)   +4 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

Polyglucosan Body Structure in Lafora Disease [PDF]

, 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

Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV

American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract RBCK1‐related disease is a rare, multisystemic disorder for which our current understanding of the natural history is limited. A number of individuals initially carried clinical diagnoses of glycogen storage disease IV (GSD IV), but were later found to harbor RBCK1 pathogenic variants, demonstrating challenges of correctly diagnosing RBCK1 ...
Haley M. Crane, Stephanie Asher, Laura Conway, Theodore G. Drivas, Staci Kallish   +4 more
wiley   +1 more source

Use of levetiracetam for the successful treatment of suspected myoclonic seizures: five dogs (2016‐2022)

Journal of Small Animal Practice, Volume 65, Issue 6, Page 402-408, June 2024.
Objectives Myoclonic seizures are considered a type of generalised seizure characterised by brief, jerking movements of the body. The aim of this study is to describe cases of suspected canine myoclonic seizure of idiopathic aetiology and to discuss the successful use of the anticonvulsant levetiracetam as treatment in each of these cases.
J. Linder, J. Mehra, S. Miller, M. J. Lewis, R. T. Bentley, S. Thomovsky   +5 more
wiley   +1 more source

Targeting GYS1: From Metabolic Regulatory Mechanisms to Precision Therapeutic Strategies

Shengwu huaxue yu shengwu wuli jinzhan
Glycogen synthase 1 (GYS1) is the rate-limiting enzyme responsible for glycogen synthesis in skeletal muscle, heart, brain, and other extrahepatic tissues, playing a central role in systemic energy homeostasis.
ZHAO Jia-Nan, LI Yu-Xuan, ZHU Jie, LI Hong, JIN Xiao-Feng   +4 more
doaj   +1 more source

Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": An exceptional phenotype in a rare pathology

, 2012
We describe an exceptional clinical picture, namely, cognitive impairment of the Alzheimer disease type in a man who later developed manifestations typical of amyotrophic lateral sclerosis and who was subsequently found to have adult polyglucosan body ...
Catherine Colson, Ruth Duttmann, Glibert, Gerald, Hazim Kadhim, Kadhim, Hazim, Colson, Cathérine, Kurt Segers, Duttmann, Ruth, Gérald Glibert, Segers, Kurt   +9 more
core   +1 more source