Results 21 to 30 of about 8,964,539 (118)

Robot-Assisted Gait Training in a Patient with Adult Polyglucosan Body Disease: A Case Report. [PDF]

J Clin Med
Background/Objectives: Adult Polyglucosan Body Disease (APBD) is a rare neurodegenerative glycogen storage disorder characterized by progressive gait disturbance, sensory impairment, and balance dysfunction.
Shin S, Yoo J, Oh D, Kim J, Jeong J, Jo S, Kim Y.   +6 more
europepmc   +2 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.
Robertson NP, Wharton S, Anderson J, Scolding NJ.   +3 more
europepmc   +2 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   +1 more source

Lafora Disease and Alpha-Synucleinopathy in Two Adult Free-Ranging Moose (Alces alces) Presenting with Signs of Blindness and Circling

Animals, 2022
Lafora disease is an autosomal recessive glycogen-storage disorder resulting from an accumulation of toxic polyglucosan bodies (PGBs) in the central nervous system, which causes behavioral and neurologic symptoms in humans and other animals. In this case
Madhu Ravi, Atilano Lacson, Margo Pybus, Mark C. Ball   +3 more
doaj   +1 more source

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

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

Table_1_Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.DOCX

, 2023
Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Daniela Schlatzer (3690370), Frederick M. Allen (17388781), Joseph R. Abraham (17388778), John Barnard (267601), Marvin R. Natowicz (13301253)   +4 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

Table_2_Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.DOCX

, 2023
Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Daniela Schlatzer (3690370), Frederick M. Allen (17388781), Joseph R. Abraham (17388778), John Barnard (267601), Marvin R. Natowicz (13301253)   +4 more
core   +1 more source

Table_3_Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.DOCX

, 2023
Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Daniela Schlatzer (3690370), Frederick M. Allen (17388781), Joseph R. Abraham (17388778), John Barnard (267601), Marvin R. Natowicz (13301253)   +4 more
core   +1 more source