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Investigation of mitochondrial function in hereditary spastic paraparesis

Lookup NU author(s): Professor Robert Taylor, Christopher Hayes, Emerita Professor Katherine Bushby, Emeritus Professor Doug Turnbull, Professor Pamela Shaw


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Following the association of hereditary spastic paraparesis (HSP) with mutation in the paraplegin gene (SPG7) and mitochondrial dysfunction, we wished to investigate whether mitochondrial dysfunction might be associated with other forms of HSP. Five cases of HSP caused by mutation in the spastin gene (SPG4) and nine cases with HSP with mutation in the spastin and paraplegin genes excluded (non-SPG4/SPG7), were investigated for mitochondrial dysfunction. Muscle tissue from the HSP groups and a control group was analysed histochemically and spectrophotometrically for mitochondrial dysfunction. A significant decrease in mitochondrial respiratory chain complexes I and IV was demonstrated in the non-SPG4/SPG7 group. No abnormality was detected in the SPG4 group. We therefore conclude that there is evidence for mitochondrial dysfunction in non-SPG4/SPG7 HSP. There is no evidence for mitochondrial dysfunction in the pathogenesis of spastin-related HSP. © 2003 Lippincott Williams & Wilkins.

Publication metadata

Author(s): McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KMD, Turnbull DM, Shaw PJ

Publication type: Article

Publication status: Published

Journal: NeuroReport

Year: 2003

Volume: 14

Issue: 3

Pages: 485-488

ISSN (print): 0959-4965

ISSN (electronic): 1473-558X

Publisher: Lippincott Williams & Wilkins


DOI: 10.1097/00001756-200303030-00038

PubMed id: 12634509


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