Parkinson's disease associated with impaired oxidative phosphorylation

• Published in: Neuroradiology Vol. 43; no. 11; pp. 997 - 1000
• Main Authors: FINSTERER, J, JARIUS, C, BAUMGARTNER, M
• Format: Journal Article
• Language: English
• Published: Berlin Springer 01.11.2001
• Subjects: Aged; Biological and medical sciences; Brain - pathology; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Humans; Magnetic Resonance Imaging; Male; Medical sciences; Mitochondrial Diseases - complications; Neurology; Parkinson Disease - etiology; Parkinson Disease - pathology; Human; Nervous system diseases; Central nervous system; Etiopathogenesis; Parkinson disease; Nuclear magnetic resonance imaging; Cerebral disorder; Case study; Oxidative phosphorylation; Central nervous system disease; Medical imagery; Degenerative disease; Elderly; Extrapyramidal syndrome; Brain (vertebrata)
• ISSN: 0028-3940; 1432-1920
• DOI: 10.1007/s002340100618

Parkinson's disease may be due to primary or secondary oxidative phosphorylation (OXPHOS) defects. In a 76-year-old man with Parkinson's disease since 1992, slightly but recurrently elevated creatine phosphokinase, recurrently elevated blood glucose, thickening of the left ventricular myocardium, bifascicular block and hypacusis were found. Cerebral MRI showed atrophy, periventricular demyelination, multiple, disseminated, supra- and infratentorial lacunas, and haemosiderin deposits in both posterior horns. Muscle biopsy showed typical features of an OXPHOS defect. Whether the association of Parkinson's disease and impaired OXPHOS was causative or coincidental remains unknown. Possibly, the mitochondrial defect acted as an additional risk factor for Parkinson's disease or the OXPHOS defect worsened the preexisting neurological impairments by a cumulative or synergistic mechanism. In conclusion, this case shows that Parkinson's disease may be associated with a mitochondrially or nuclearly encoded OXPHOS defect, manifesting as hypacusis, myopathy, axonal polyneuropathy, cardiomyopathy and recurrent subclinical ischaemic strokes and haemorrhages.