Results 31 to 40 of about 62,774 (200)

Adult Polyglucosan Body Disease

Archives of Pathology & Laboratory Medicine, 2001
Abstract We describe a case of adult polyglucosan body disease with characteristic clinical symptoms of peripheral neuropathy, upper motor neuron signs, and bowel and bladder dysfunction. Sural nerve biopsy revealed diagnostic intra-axonal polyglucosan bodies. On electron microscopic examination, the inclusions were located mainly within
P, Milde, J G, Guccion, J, Kelly, E, Locatelli, R V, Jones   +4 more
openaire   +2 more sources

ILAE Genetics Literacy series: Progressive myoclonus epilepsies

Epileptic Disorders, Volume 25, Issue 5, Page 670-680, October 2023., 2023
Abstract Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME.
Jillian M. Cameron, Colin A. Ellis, Samuel F. Berkovic, for the ILAE Genetics Commission, the ILAE Genetic Literacy Task Force, Piero Perucca, J. Helen Cross, Holger Lerche, Alina I. Esterhuizen, Iscia Lopes‐Cendes, Meng‐Han Tsai, Daniel H. Lowenstein, Nigel C. K. Tan, Ingo Helbig, Heather C. Mefford, Andreas Brunklaus, Gaetan Lesca, Elizabeth Emma Palmer, Amy McTague, Faiza Fakhfakh, Norman Delanty, Daniel H. Lowenstein, Nigel C. K. Tan, Alina I. Esterhuizen   +23 more
wiley   +1 more source

A United States-based patient-reported adult polyglucosan body disease registry: initial results [PDF]

Ther Adv Rare Dis
Background: Adult Polyglucosan Body Disease (APBD) is an ultra-rare, genetic neurodegenerative disorder caused by autosomal recessive mutations in the glycogen branching enzyme gene.
Jacy Sparks, Francesco Michelassi, John L P Thompson, R. Buchsbaum, Natacha T Pires, Janet T. DeRosa, Kristin Engelstad, Salvatore DiMauro, H. Akman, M. Hirano   +9 more
europepmc   +2 more sources

Lafora disease offers a unique window into neuronal glycogen metabolism [PDF]

, 2018
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD
Gentry, Matthew S., Guinovart, Joan J., Minassian, Berge A., Roach, Peter J., Serratosa, Jose M.   +4 more
core   +2 more sources

Type 2 polysaccharide storage myopathy in Quarter Horses is a novel glycogen storage disease causing exertional rhabdomyolysis

Equine Veterinary Journal, Volume 55, Issue 4, Page 618-631, July 2023., 2023
Abstract Background Both type 1 (PSSM1) and type 2 polysaccharide storage myopathy (PSSM2) are characterised by aggregates of abnormal polysaccharide in skeletal muscle. Whereas the genetic basis for PSSM1 is known (R309H GYS1), the cause of PSSM2 in Quarter Horses (PSSM2‐QH) is unknown and glycogen concentrations not defined.
Stephanie J. Valberg, Zoë J. Williams, Carrie J. Finno, Abigail Schultz, Deborah Velez‐Irizarry, Marisa L. Henry, Keri Gardner, Jessica L. Petersen   +7 more
wiley   +1 more source

Human and microbial proteins from corpora amylacea of Alzheimer's disease [PDF]

, 2018
Corpora amylacea (CA) are spherical bodies mainly composed of polyglucans and, to a lesser extent, proteins. They are abundant in brains from patients with neurodegenerative diseases, particularly Alzheimer's disease.
Alonso, Ruth, Carrasco, Luis, Marina, Ana Isabel, Pisa, Diana, Rábano, Alberto   +4 more
core   +2 more sources

A new drug candidate for glycogen storage disorders enhances glycogen catabolism: Lessons from Adult Polyglucosan Body Disease models

bioRxiv, 2021
This work employs Adult Polyglucosan Body Disease (APBD) models to explore the efficacy and mechanism of action of 144DG11, a new polyglucosan-reducing lead compound discovered by a high-throughput screen (HTS).
Hilla Vaknin, Kumudesh Mishra, J. D’Souza, Monzer Marisat, U. Sprecher, S. Wald-Altman, Anna Dukhovny, Y. Raviv, Benny Da’adoosh, Hamutal Engel, S. Benhamron, K. Nitzan, A. Permyakova, H. Rosenmann, A. Lossos, J. Tam, B. Minassian, O. Kakhlon, M. Weil   +18 more
semanticscholar   +1 more source

Phenotypic and genetic aspects of hereditary ataxia in dogs

Journal of Veterinary Internal Medicine, Volume 37, Issue 4, Page 1306-1322, July/August 2023., 2023
Abstract Hereditary ataxias are a large group of neurodegenerative diseases that have cerebellar or spinocerebellar dysfunction as core feature, occurring as an isolated sign or as part of a syndrome. Based on neuropathology, this group of diseases has so far been classified into cerebellar cortical degenerations, spinocerebellar degenerations ...
Kimberley Stee, Mario Van Poucke, Mark Lowrie, Luc Van Ham, Luc Peelman, Natasha Olby, Sofie F.M. Bhatti   +6 more
wiley   +1 more source

Audiogenic reflex seizures in cats [PDF]

, 2015
This study aims at characterizing feline audiogenic reflex seizures (FARS). An online questionnaire was developed to capture information from owners with cats suffering FARS.
Bessant, C, Garosi, L, Harvey, RJ, Lowrie, M, Sparkes, A   +4 more
core   +2 more sources

Wasteosomes (corpora amylacea) as a hallmark of chronic glymphatic insufficiency [PDF]

, 2023
In different organs and tissues, the lymphatic system serves as a drainage system for interstitial fluid and is useful for removing substances that would otherwise accumulate in the interstitium.
Molina Porcel, Laura, Pelegrí i Gabaldà, Carme, Riba Baques, Marta, Valle i Macià, Jaume del, Vilaplana i Hortensi, Jordi   +4 more
core   +1 more source