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.
| Original language | English |
|---|---|
| Pages (from-to) | 255-258 |
| Number of pages | 4 |
| Journal | Acta Neurologica Scandinavica |
| Volume | 101 |
| Issue number | 4 |
| Publication status | Published - 2000 |
Keywords
- MtDNA
- Muscle biopsy
- Oxidative phosphorylation
- Spastic paraparesis
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
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Santorelli, F. M., Piemonte, F., Carrozzo, R., Tessa, A., Patrono, C., Tozzi, G., & Bertini, E. (2000). OXPHOS and mtDNA alterations in a family with spastic paraparesis. Acta Neurologica Scandinavica, 101(4), 255-258.