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- Title
OXPHOS and mtDNA alterations in a family with spastic paraparesis.
- Authors
Santorelli, F. M.; Piemonte, F.; Carrozzo, R.; Tessa, A.; Patrono, C.; Tozzi, G.; Bertini, E.
- Abstract
Objective – To study muscle biopsies in hereditary spastic paraparesis (HSP). Methods – We analyzed oxidative phosphorylation activities and mtDNA in 3 individuals from an HSP family. Results – We found histochemical evidence for mitochondrial proliferation and cytochrome c oxidase negative fibers. Biochemically, there was an important reduction of the activities of complexes I and IV in 3 patients. In addition, multiple mtDNA deletions (ranging 4.0–7.0 kb) were found in 2 cases by PCR but not by Southern blot. Conclusion – We suggest the use of a muscle biopsy when examining HSP patients. HSP can represent a disorder of nuclear‐mitochondrial intercommunication.
- Subjects
BIOPSY; SPASTIC paralysis; DIAGNOSIS
- Publication
Acta Neurologica Scandinavica, 2000, Vol 101, Issue 4, p255
- ISSN
0001-6314
- Publication type
Article
- DOI
10.1034/j.1600-0404.2000.101004255.x