Results 41 to 50 of about 62,774 (200)

New perspectives on corpora amylacea in the human brain [PDF]

, 2018
Corpora amylacea are structures of unknown origin and function that appear with age in human brains and are profuse in selected brain areas in several neurodegenerative conditions.
Augé Marí, Elisabet, Cabezón Rodríguez, Itsaso, Pelegrí i Gabaldà, Carme, Vilaplana i Hortensi, Jordi   +3 more
core   +1 more source

Adult Polyglucosan Body Disease Associated With Lewy Bodies and Tremor [PDF]

Archives of Neurology, 2003
Adult polyglucosan body disease (PGBD) is rare and typically presents with upper and lower motor neuron involvement and neurogenic bladder. Extrapyramidal features are unusual in PGBD and are presumed secondary to widespread pathology that includes the basal ganglia.
Jaya R, Trivedi, Gil I, Wolfe, Sharon P, Nations, Dennis K, Burns, Wilson W, Bryan, Richard B, Dewey   +5 more
openaire   +2 more sources

Glycogen and its metabolism: some new developments and old themes [PDF]

, 2012
Glycogen is a branched polymer of glucose that acts as a store of energy in times of nutritional sufficiency for utilization in times of need. Its metabolism has been the subject of extensive investigation and much is known about its regulation by ...
Depaoli-Roach, Anna A., Hurley, Thomas D., Roach, Peter J., Tagliabracci, Vincent S.   +3 more
core   +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

Late-onset Tay-Sachs disease [PDF]

, 2017
We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of ...
Andrew W Barritt, Basil H Ridha, Bocchetta, Chen, Cooper-Knock, Elstein, Frey, Ghasemi, MacQueen, Neudorfer, Neudorfer, Osher, P Nigel Leigh, Shapiro, Stryer, Stuart J Anderson, Suzuki, Turner, Zaroff   +18 more
core   +1 more source

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

Annals of Clinical and Translational Neurology, 2019
Background A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed intra‐axonal inclusions suggestive of polyglucosan bodies, raising the suspicion of adult ...
Béryl Royer‐Bertrand, Pinelopi Tsouni, Patrick Mullen, Belinda Campos Xavier, Lauréane Mittaz Crettol, Alexander J. Lobrinus, Joseph Ghika, Matthias R. Baumgartner, Carlo Rivolta, Andrea Superti‐Furga, Thierry Kuntzer, Christopher Francklyn, Christel Tran   +12 more
doaj   +1 more source

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]

, 2014
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève, Helman, Guy, Leventer, Richard J., McNeill, Nathan H., on behalf of the GLIA Consortium, Parikh, Sumit, Patterson, Marc C., Pizzino, Amy, Rizzo, William B., Schmidt, Johanna L., Simons, Cas, Taft, Ryan J., van der Knaap, Marjo S., van Hove, Johan, Vanderver, Adeline   +14 more
core   +2 more sources

Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora [PDF]

, 2022
Lafora disease (LD) is a fatal childhood-onset dementia characterized by the extensive accumulation of glycogen aggregates-the so-called Lafora Bodies (LBs)-in several organs.
Aguilera, Mònica, Brewer, M. Kathryn, Duran, Jordi, Guinovart, Joan J. (Joan Josep), 1947-, Guitart, Anna, Hervera, Arnau, López-Soldado, Iliana, Pellegrini, Pasquale, Prats, Neus, Río Fernández, José Antonio del, Varea, Olga   +10 more
core   +2 more sources

Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy

Journal of Lipid Research, 2017
Adult polyglucosan body disease (APBD) is a neurological disorder characterized by adult-onset neurogenic bladder, spasticity, weakness, and sensory loss.
Rafael Alvarez, Jesús Casas, David J. López, Maitane Ibarguren, Ariadna Suari-Rivera, Silvia Terés, Francisca Guardiola-Serrano, Alexander Lossos, Xavier Busquets, Or Kakhlon, Pablo V. Escribá   +10 more
doaj   +1 more source

Corpora Amylacea of Brain Tissue from Neurodegenerative Diseases Are Stained with Specific Antifungal Antibodies [PDF]

, 2016
The origin and potential function of corpora amylacea (CA) remains largely unknown. Low numbers of CA are detected in the aging brain of normal individuals but they are abundant in the central nervous system of patients with neurodegenerative diseases ...
Alonso, R., Carrasco, L., Pisa, D., Rábano, Alberto   +3 more
core   +3 more sources