Results 31 to 40 of about 9,468,531 (154)

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies. [PDF]

Ann Neurol
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Fogel BL, Klopstock T, Lynch DR, Maltecca F, Verma M, Minassian BA, Platt FM, Gonçalves DF, Puccio H, Roos A, Synofzik M.   +10 more
europepmc   +2 more sources

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.
Petra Milde, John G. Guccion, John Kelly, Eduardo Locatelli, Robert V. Jones   +4 more
openaire   +3 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

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

Sevoflurane anaesthesia for a patient with adult polyglucosan body disease [PDF]

Canadian Journal of Anaesthesia, 1996
Adult polyglucosan body disease (APBD) is a rare neurological disorder of unknown cause characterized by four manifestations: upper motor neuron signs, peripheral neuropathy with motor and sensory loss, urinary incontinence, and dementia. The purpose of this report is to present a patient with APBD anaesthetized successfully with sevoflurane and ...
S, Inoue, R, Ishii, H, Fukuda, K, Saitoh, R, Shimizu   +4 more
openaire   +2 more sources

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_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

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