Polysaccharide storage myopathies have been described in several animal species and are characterized by periodic acid-Schiff (PAS)-positive, diastase-resistant intrasarcoplasmic inclusions in myocytes. Skeletal and cardiac muscle samples from a subset of a single pod of stranded long-finned pilot whales (Globicephala melas) were evaluated by light and transmission electron microscopy. Twelve individuals demonstrated sporadic basophilic packets of PAS-positive, diastase-resistant complex polysaccharide material, either centrally or peripherally, in skeletal and cardiac myocytes. Few microscopic myopathic changes were found but included focal inflammation and internalized nuclei. Ultrastructurally, the inclusions consisted of loosely arranged, tangled filaments and were not membrane-bound, which is consistent with polyglucosan inclusions. Within skeletal muscle, the number of inclusions had a marginal statistically significant (P = 0.0536) correlation with length, as a proxy for age, suggesting that such inclusions in skeletal muscles may be age-related, although the cause remains unclear.
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http://dx.doi.org/10.1016/j.jcpa.2020.09.011 | DOI Listing |
J Comp Pathol
January 2025
Joint Pathology Center, 606 Stephen Sitter Ave, Silver Spring, Maryland 20910, USA.
Following an episode of sudden lethargy, an 18-month-old female black-capped parrot (Pionites melanocephalus) died while being examined. On gross examination, there was fluid within the coelom, hepatomegaly with yellow colouration and the heart appeared enlarged with pallor throughout the myocardium. On histological examination, cardiomyocytes were swollen with loss of cross striations and contained 6-12-μm diameter intrasarcoplasmic pale grey inclusions of storage material.
View Article and Find Full Text PDFPolyglucosan bodies are accumulations of insoluble glucose polymers and proteins that form intracytoplasmic inclusions in the brain, large numbers of which can be indicative of neurodegenerative diseases such as Lafora disease. Montserrat orioles () are an icterid passerine endemic to Montserrat with conservation populations maintained in captivity abroad. We demonstrate that polyglucosan bodies are unusually abundant in the cerebellar molecular and Purkinje cell layers and cerebellar peduncles of captive-bred and wild-caught Montserrat orioles.
View Article and Find Full Text PDFJ Comp Neurol
July 2024
Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Lafora disease (LD) is a syndrome of progressive myoclonic epilepsy and cumulative neurocognitive deterioration caused by recessively inherited genetic lesions of EPM2A (laforin) or NHLRC1 (malin). Neuropsychiatric symptomatology in LD is thought to be directly downstream of neuronal and astrocytic polyglucosan aggregates, termed Lafora bodies (LBs), which faithfully accumulate in an age-dependent manner in all mouse models of LD. In this study, we applied home-cage monitoring to examine the extent of neurobehavioral deterioration in a model of malin-deficient LD as a means to identify robust preclinical endpoints that may guide the selection of novel genetic treatments.
View Article and Find Full Text PDFActa Neuropathol Commun
June 2024
Secció de Fisiologia, Departament de Bioquímica i Fisiologia, Facultat de Farmàcia i Ciències de l'Alimentació, Universitat de Barcelona, Avda. Joan XXIII 27-31, 08028, Barcelona, Spain.
Ther Adv Rare Dis
March 2024
H. Houston Merritt Neuromuscular Research Center, Department of Neurology, Columbia University Irving Medical Center, 630 West 168th St, P&S 4-423, New York, NY 10032-3784, USA.
Background: Adult Polyglucosan Body Disease (APBD) is an ultra-rare, genetic neurodegenerative disorder caused by autosomal recessive mutations in the glycogen branching enzyme gene. Knowledge of the demographic and clinical characteristics of APBD patients and the natural history of the disease is lacking. We report here initial results from a patient-reported registry of APBD patients.
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