Bibliographic Details
| 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. |
| Source: |
Acta Neurologica Scandinavica. Apr2000, Vol. 101 Issue 4, p255-258. 4p. 4 Black and White Photographs, 2 Diagrams. |
| Subjects: |
Biopsy, Spastic paralysis, Diagnosis |
| 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. [ABSTRACT FROM AUTHOR] |
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| Database: |
Psychology and Behavioral Sciences Collection |
