Publications by authors named "Klaus Isenhardt"
Article Synopsis
- The study investigates the role of a specific genetic repeat expansion in patients with CANVAS and other ataxias, revealing its presence mostly in those with CANVAS and not in healthy controls.
- Genetic analyses were conducted on 457 individuals using various methods, finding high rates of this repeat expansion in patients, particularly those with complete CANVAS symptoms.
- The research concludes that this genetic repeat expansion is a significant factor in CANVAS, but the exact mechanism of how it contributes to the disease is still unknown, indicating a need for further study.
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.
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