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Updated: Oct 6, 2026

The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease
Published on: October 3, 2012
[Parkinson disease and alkaptonuria: fortuitous association or striatonigral ochronosis?]
R Aquaron1, G Fayet, C Barthet
1Laboratoire de Biochimie Médicale, Faculté de Médecine et Laboratoire de Biologie de l'Hôpital d'Enfants de la Timone, Marseille.
Abstract:
We report the case of a 64 year old woman treated for 10 years by DOPA for Parkinson's disease and displaying brown urine. Homogentisic acid was found in urine, establishing the diagnosis of alkaptonuria. Clinical and radiological studies demonstrated ochronosis and ochronotic arthropathy, blue pigmentation of ear cartilage and calcification of the intervertebral lumbar disc giving the classical "inverted spine". Interrelation between this metabolic abnormality and Parkinson's disease is discussed. The recent cloning and mapping of the human gene for alkaptonuria to chromosome 3q should bring some clarification among relationships between these two diseases.
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