Results 21 to 30 of about 9,468,531 (154)

Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China [PDF]

Genes and Diseases
Yikun Chen, Yan Shi, Yuan Gao, Yan Hu, Linying Zhou, Jingmei Hong, Shirui Gan, Xiang Lin, Wanjin Chen, Guorong Xu, Jin He   +10 more
doaj   +2 more sources

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease. [PDF]

Neurol Genet, 2017
Harigaya Y, Matsukawa T, Fujita Y, Mizushima K, Ishiura H, Mitsui J, Morishita S, Shoji M, Ikeda Y, Tsuji S.   +9 more
europepmc   +4 more sources

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. [PDF]

Ann Neurol, 2012
Objective: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy.
Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A.   +23 more
europepmc   +2 more sources

A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease. [PDF]

Biochem J, 2017
Glycogen storage disorders (GSDs) are caused by excessive accumulation of glycogen. Some GSDs [adult polyglucosan (PG) body disease (APBD), and Tarui and Lafora diseases] are caused by intracellular accumulation of insoluble inclusions, called PG bodies (
Solmesky LJ, Khazanov N, Senderowitz H, Wang P, Minassian BA, Ferreira IM, Yue WW, Lossos A, Weil M, Kakhlon O.   +9 more
europepmc   +2 more sources

Probable Adult Polyglucosan Body Disease [PDF]

Mayo Clinic Proceedings, 2000
Adult polyglucosan body disease is a clinicopathologic entity characterized by progressive upper and lower motor neuron dysfunction, sensory loss in the lower extremities, sphincter dysfunction, and occasionally dementia. Pathologically, numerous large polyglucosan bodies are noted in peripheral nerves, cerebral hemispheres, and the spinal cord, as ...
C M, Klein, E P, Bosch, P J, Dyck
openaire   +2 more sources

Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders

Cells, 2023
Lafora disease is a rare disorder caused by loss of function mutations in either the EPM2A or NHLRC1 gene. The initial symptoms of this condition are most commonly epileptic seizures, but the disease progresses rapidly with dementia, neuropsychiatric ...
Jordi Duran
doaj   +1 more source

Preparing Genetic Counselors for Advocacy Partnerships: A Novel Internship Model. [PDF]

J Genet Couns
ABSTRACT Patient advocacy organizations (PAOs) and genetic counseling have expanded in tandem with the growth of precision medicine. Genetic counseling and PAOs share important goals related to advancing genomic medicine, creating novel possibilities for synergistic collaboration, especially as the sheer number of PAOs focused on genetic conditions ...
Kalista M, Kessler LJ, Requesens D, Valverde KD, Mueller R.   +4 more
europepmc   +2 more sources

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

Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells. [PDF]

Nucleic Acids Res
Thomas R, Miyoshi E, Akman HO, Storz SHR, Goffena J, Pytte J, Miller DE, Skourti-Stathaki K, Crooke ST.   +8 more
europepmc   +2 more sources

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review. [PDF]

J Inherit Metab Dis
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Moio MR, Milke JC, Moutapam-Ngamby-Adriaansen Y, Alberti AM, Gernay M, Schütz EA, Schwartz IVD, Maillot F.   +7 more
europepmc   +2 more sources