Delayed or late-onset type II glycogenosis with globular inclusions
| Autor: | Mehar C. Sharma, Teodor Podskarbi, Arpad von Moers, C. Schultze, Gisela Stoltenburg-Didinger, Yoon S. Shin, Klaus Isenhardt, Dominique S. Tews, Hans H. Goebel |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Late onset Biology Polymerase Chain Reaction Pathology and Forensic Medicine Cellular and Molecular Neuroscience chemistry.chemical_compound Microscopy Electron Transmission Biopsy medicine Reducing bodies Humans Child Muscle Skeletal Inclusion Bodies Muscle biopsy Adult female medicine.diagnostic_test Glycogen Glycogen Storage Disease Type II alpha-Glucosidases Middle Aged medicine.disease Congenital myopathy Biochemistry chemistry Mutation Ultrastructure Female Neurology (clinical) |
| Zdroj: | Acta neuropathologica. 110(2) |
| ISSN: | 0001-6322 |
| Popis: | Three unrelated patients, one girl, one boy, and an adult female, aged 14, 11 and 41 years, respectively, at the time of biopsy, revealed lysosomal glycogen storage, autophagic vacuoles and peculiar globular inclusions of distinct ultrastructure, which were reducing but did not appear like true "reducing bodies" as described in the congenital myopathy "reducing body myopathy". All three patients had residual activity of acid alpha-glucosidase in their muscle biopsy samples. Leukocytes in the girl showed normal acid alpha-glucosidase activity, but in the boy activity was reduced. Molecular genetic analysis of the GAA gene revealed disease-causing mutations in each patient: H568L/R672W, IVS1-13TG/G615F, and IVS1-13TG/IVS1-13TG. Although only one patient with such globular inclusions has been reported up to now, the three patients described here indicate that in the late-onset type of GSD II such inclusions may not be rare. |
| Databáze: | OpenAIRE |
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