caa a22 4500 465768253 CHVBK 20180323111921.0 cr unu---uuuuu 170327e19900901xx s 000 0 eng 10.1007/BF00294616 doi (NATIONALLICENCE)springer-10.1007/BF00294616 Neuropathology in Kearns-Sayre syndrome [Elektronische Daten] [A. Oldfors, I. Fyhr, E. Holme, N. Larsson, M. Tulinius] Summary: The neuropathological changes found at autopsy in a case of Kearns-Sayre syndrome are described. We have previously analyzed the respiratory chain function in isolated muscle mitochondria and also described a large deletion of muscle mitochondrial DNA (mtDNA) in this case. The neuropathological examination revealed prominent neuronal degeneration and gliosis of the basal ganglia and there were bilateral areas of softening and total loss of nerve cells in the lenticular nuclei. The pallidum and caudate nucleus disclosed accumulation of iron-containing pigment. The white matter in the cerebrum, brain stem and cerebellum showed widespread and focally accentuated spongy change due to splitting of myclin lamellae. It is suggested that deficiency of respiratory chain enzymes due to the mtDNA deletion is of pathogenetic importance in the development of the described changes. Springer-Verlag, 1990 Mitochondria nationallicence Central nervous system nationallicence Skeletal muscle nationallicence Pathology nationallicence Oldfors A. Department of Pathology, Göteborg University, S-413 45, Göteborg, Sweden aut Fyhr I. Department of Pathology, Göteborg University, S-413 45, Göteborg, Sweden aut Holme E. Department of Clinical Chemistry, Göteborg University, S-413 45, Göteborg, Sweden aut Larsson N. Department of Clinical Chemistry, Göteborg University, S-413 45, Göteborg, Sweden aut Tulinius M. Department of Pediatrics, Göteborg University, S-413 45, Göteborg, Sweden aut Acta Neuropathologica Springer-Verlag 80/5(1990-09-01), 541-546 0001-6322 80:5<541 1990 80 401 https://doi.org/10.1007/BF00294616 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00294616 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Oldfors A. Department of Pathology, Göteborg University, S-413 45, Göteborg, Sweden aut NATIONALLICENCE 700 1- Fyhr I. Department of Pathology, Göteborg University, S-413 45, Göteborg, Sweden aut NATIONALLICENCE 700 1- Holme E. Department of Clinical Chemistry, Göteborg University, S-413 45, Göteborg, Sweden aut NATIONALLICENCE 700 1- Larsson N. Department of Clinical Chemistry, Göteborg University, S-413 45, Göteborg, Sweden aut NATIONALLICENCE 700 1- Tulinius M. Department of Pediatrics, Göteborg University, S-413 45, Göteborg, Sweden aut NATIONALLICENCE 773 0- Acta Neuropathologica Springer-Verlag 80/5(1990-09-01), 541-546 0001-6322 80:5<541 1990 80 401 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer