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40 Possible Causes for Polyglucosan Accumulation

  • Adult Polyglucosan Body Disease

    Polyglucosan accumulates in astrocytes, a type of neuroglia.[blogs.plos.org] Polyglucosan bodies accumulate in the central and peripheral nervous systems and are often associated with glycogen branching enzyme (GBE) deficiency.[ncbi.nlm.nih.gov] Autopsy of a 50-year-old woman with adult polyglucosan body disease and missense mutations (Arg515His, Arg524Gln) in the glycogen branching enzyme gene (GBE) revealed accumulation[ncbi.nlm.nih.gov]

  • Lafora Disease

    The hallmark of the disease is the accumulation of polyglucosan inclusions called Lafora Bodies (LBs).[ncbi.nlm.nih.gov] […] bodies and accumulation of laforin and other functionally associated proteins in the polyglucosan bodies.[ncbi.nlm.nih.gov] Neurons in LD exhibit Lafora bodies (LBs), large accumulations of malconstructed insoluble glycogen (polyglucosans).[ncbi.nlm.nih.gov]

  • Polyglucosan Body Myopathy Type 2

    The patients were homozygous or compound heterozygous for missense or truncating mutations in RBCK1, which encodes for a ubiquitin ligase, and had extensive polyglucosan accumulation[ncbi.nlm.nih.gov] Polyglucosan body myopathy 2 (PGBM2) [MIM:616199]: A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement[genecards.org] Polyglucosan accumulates in astrocytes, a type of neuroglia.[blogs.plos.org]

  • Progressive Myoclonic Epilepsy Type 8

    Using immunogold electron microscopy, we show that laforin is found in close proximity to the ER surrounding the polyglucosan accumulations [21].[wikigenes.org] accumulations and a peculiar neurodegeneration with generalised organellar disintegration.[jmg.bmj.com] Lafora disease is a neuronal glycogenosis in which normal glycogen is transformed into starch-like polyglucosans that accumulate in the neuronal somatodendritic compartment[allmedx.com]

  • Progressive Myoclonic Epilepsy Type 3

    Using immunogold electron microscopy, we show that laforin is found in close proximity to the ER surrounding the polyglucosan accumulations [21].[wikigenes.org] accumulations and a peculiar neurodegeneration with generalised organellar disintegration.[jmg.bmj.com] […] of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada; bminass{at}sickkids.ca Abstract Background: Lafora disease is a progressive myoclonus epilepsy with polyglucosan[jmg.bmj.com]

  • Uncinate Seizure

    […] of polyglucosans in neuron cytoplasm -- brain atrophy (also heart, Lv, skin, nerves, muscles) Diffuse background slowing Frequent spike / polyspike wave BALTIC MYOCLONUS[learnneurosurgery.com] 2nd generalization Loc: corpus callosum Corpus callosotomy LAFORA / FAMILIAL MYOCLONIC EPILEPSY Epi: mid teens Gen: Ar Sx: myoclonic sz, dementia His: Lafora bodies MoA: accumulation[learnneurosurgery.com]

  • Progressive Myoclonic Epilepsy Type 7

    accumulations and a peculiar neurodegeneration with generalised organellar disintegration.[jmg.bmj.com] At the cellular level, it is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose[mybiosource.com] […] of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada; bminass{at}sickkids.ca Abstract Background: Lafora disease is a progressive myoclonus epilepsy with polyglucosan[jmg.bmj.com]

  • Glycogen Storage Disease Type 4

    Abnormal glycogen molecules called polyglucosan bodies accumulate in cells, leading to damage and cell death.[ghr.nlm.nih.gov] Polyglucosan accumulates in astrocytes, a type of neuroglia.[blogs.plos.org] The defective enzyme results in the formation and accumulation of an abnormal form of glycogen, called polyglucosan (with long, unbranched chains of glucose molecules) This[dovemed.com]

  • Herpes Simplex Infection

    Teased-fiber from sural nerve with axonal enlargements due to polyglucosan bodies. B.[slideplayer.com] Semithin section shows axonal accumulations of glycogen deposits. 11 III.3: Double Vision?[slideplayer.com] […] bodies accumulate in the central and peripheral nervous systems and are often associated with glycogen branching enzyme (GBE) deficiency (PAS)-positive polyglycosan bodies[slideplayer.com]

  • Chronic Liver Disease

    Liver involvement in genetic and metabolic disorders may result in intrahepatic accumulation of specific precursors or byproducts, which have distinctive features on light[ncbi.nlm.nih.gov] The "polyglucosan disorders" are diseases in which polyglucosan (abnormal glycogen with decreased branching) is formed and deposited in various tissues because of decreased[ncbi.nlm.nih.gov]

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