OXPHOS and mtDNA alterations in a family with spastic paraparesis.
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| Title: | OXPHOS and mtDNA alterations in a family with spastic paraparesis. |
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| 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] |
| Copyright of Acta Neurologica Scandinavica is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 5220998 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: OXPHOS and mtDNA alterations in a family with spastic paraparesis. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Santorelli%2C+F%2E+M%2E%22">Santorelli, F. M.</searchLink><br /><searchLink fieldCode="AR" term="%22Piemonte%2C+F%2E%22">Piemonte, F.</searchLink><br /><searchLink fieldCode="AR" term="%22Carrozzo%2C+R%2E%22">Carrozzo, R.</searchLink><br /><searchLink fieldCode="AR" term="%22Tessa%2C+A%2E%22">Tessa, A.</searchLink><br /><searchLink fieldCode="AR" term="%22Patrono%2C+C%2E%22">Patrono, C.</searchLink><br /><searchLink fieldCode="AR" term="%22Tozzi%2C+G%2E%22">Tozzi, G.</searchLink><br /><searchLink fieldCode="AR" term="%22Bertini%2C+E%2E%22">Bertini, E.</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Acta+Neurologica+Scandinavica%22">Acta Neurologica Scandinavica</searchLink>. Apr2000, Vol. 101 Issue 4, p255-258. 4p. 4 Black and White Photographs, 2 Diagrams. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Biopsy%22">Biopsy</searchLink><br /><searchLink fieldCode="DE" term="%22Spastic+paralysis%22">Spastic paralysis</searchLink><br /><searchLink fieldCode="DE" term="%22Diagnosis%22">Diagnosis</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: 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] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Acta Neurologica Scandinavica is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1034/j.1600-0404.2000.101004255.x Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 4 StartPage: 255 Subjects: – SubjectFull: Biopsy Type: general – SubjectFull: Spastic paralysis Type: general – SubjectFull: Diagnosis Type: general Titles: – TitleFull: OXPHOS and mtDNA alterations in a family with spastic paraparesis. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Santorelli, F. M. – PersonEntity: Name: NameFull: Piemonte, F. – PersonEntity: Name: NameFull: Carrozzo, R. – PersonEntity: Name: NameFull: Tessa, A. – PersonEntity: Name: NameFull: Patrono, C. – PersonEntity: Name: NameFull: Tozzi, G. – PersonEntity: Name: NameFull: Bertini, E. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: Apr2000 Type: published Y: 2000 Identifiers: – Type: issn-print Value: 00016314 Numbering: – Type: volume Value: 101 – Type: issue Value: 4 Titles: – TitleFull: Acta Neurologica Scandinavica Type: main |
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