GENETICS OF NERVOUS SYSTEM DISEASESInvestigation of mitochondrial function in hereditary spastic paraparesisMcDermott, C. J.CA; Taylor, R. W.1; Hayes, C.1; Johnson, M.1; Bushby, K. M. D.2; Turnbull, D. M.1; Shaw, P. J.Author Information Academic Neurology Unit, University of Sheffield, E Floor, Medical School, Royal Hallamshire Hospital, Beech Hill Rd, Sheffield S10 2RX Departments of 1Neurology 2Human Genetics, University of Newcastle upon Tyne, UK CACorresponding Author: email@example.com Received 7 May 2002; accepted 5 June 2002 NeuroReport: March 3rd, 2003 - Volume 14 - Issue 3 - p 485-488 Buy Abstract 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, Inc.