Results 11 to 20 of about 9,468,531 (154)

Distinct features in adult polyglucosan body disease: a case series

Neuromuscular Disorders, 2023
Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline. Here we present a Belgian cohort of four patients from three families showing both classical and atypical signs of APBD.
De Winter, Jonathan, Cypers, Gert, Jacobs, Edwin, Bossche, Stephanie Vanden, Deconinck, Tine, De Ridder, Willem, Dekeyzer, Sven, Baets, Jonathan   +7 more
exaly   +6 more sources

Adult polyglucosan body disease associated with an extrapyramidal syndrome. [PDF]

J Neurol Neurosurg Psychiatry, 1998
A 50 year old patient is described who presented with parkinsonism, frontal dementia, peripheral neuropathy, neurogenic bladder, and upper motor neuron signs. No improvement in objective measurements of extrapyramidal dysfunction were seen with an incremental apomorphine test or more prolonged oral dopamine challenge.
Robertson NP, Wharton S, Anderson J, Scolding NJ.   +3 more
europepmc   +5 more sources

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

EMBO Molecular Medicine, 2021
This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11.
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil   +21 more
doaj   +2 more sources

Spastic ataxia with sensory neuropathy sans cerebral leukodystrophy in probable adult polyglucosan body disease [PDF]

Annals of Indian Academy of Neurology, 2023
Rohan Mahale, Sridhar Shashi, Anitha Mahadevan, Raviprakash Singh, Vivek Potluri, Hansashree Padmanabha, Pooja Mailankody, Mathuranath S Pavagada   +7 more
doaj   +2 more sources

Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism [PDF]

EMBO Molecular Medicine
In this Correspondence, B. Minassian and colleagues report that GHF201, an autophagy activator shown to diminish abnormal glycogen aggregates in a mouse model of Adult Polyglucosan Body Disease, fails to reduce such accumulations in a mouse model of ...
Jun Wu, Or Kakhlon, Miguel Weil, Alexander Lossos, Berge A Minassian   +4 more
doaj   +2 more sources

Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease. [PDF]

Gene, 2013
A 45-year old woman of Cambodian ethnic background presented with fatal respiratory failure due to a severe diaphragmatic dysfunction. Two years before, she had developed early onset of urinary symptoms.Neuroimaging showed atrophy of the spine and medulla as well as a leukodystrophy affecting both supra- and infra-tentorial regions.
Dainese L, Monin ML, Demeret S, Brochier G, Froissart R, Spraul A, Schiffmann R, Seilhean D, Mochel F.   +8 more
europepmc   +3 more sources

Triheptanoin Supplementation Does Not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease

Journal of the American College of Nutrition, 2020
Objective: An anaplerotic diet with the odd-chain triglyceride (triheptanoin-C7TG) supplementation was tested as a therapy for Adult Polyglucosan Body Disease (APBD) and is currently being assessed for various metabolic disorders.
Simona Bertoli, Alessandro Leone, Ettore Salsano   +2 more
exaly   +2 more sources

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease [PDF]

The EMBO Journal
Polyglucosans are glycogen molecules with overlong chains, which are hyperphosphorylated in the neurodegenerative Lafora disease (LD). Brain polyglucosan bodies (PBs) cause fatal neurodegenerative diseases including Lafora disease and adult polyglucosan ...
Silvia Nitschke, Alina P Montalbano, Megan E Whiting, Brandon H Smith, Neije Mukherjee-Roy, Charlotte R Marchioni, Mitchell A Sullivan, Xiaochu Zhao, Peixiang Wang, Howard Mount, Mayank Verma, Berge A Minassian, Felix Nitschke   +12 more
doaj   +2 more sources

Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle

Neuropathology and Applied Neurobiology, Volume 50, Issue 3, June 2024.
Aims: Polyglucosan storage disorders represent an emerging field within neurodegenerative and neuromuscular conditions, including Lafora disease (EPM2A, EPM2B), adult polyglucosan body disease (APBD, GBE1), polyglucosan body myopathies associated with ...
Oldfors, Anders,, Oldfors Hedberg, Carola,, Costello, Daniel J., Visuttijai, Kittichate,, Bermingham, Niamh   +4 more
core   +2 more sources

Adult Polyglucosan Body Disease: Proton Magnetic Resonance Spectroscopy of the Brain and Novel Mutation in the GBE1 Gene

Muscle and Nerve, 2008
Adult polyglucosan body disease (APBD) is characterized by the accumulation of insoluble glucose polymers within the central and peripheral nervous systems.
Roberto Massa, Alessandro Martorana, Claudio Bruno   +2 more
exaly   +2 more sources