PINK1 parkinsonism and Parkinson disease: Distinguishable brain mitochondrial function and metabolomics |
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Authors: | M. Rango A. Arighi G. Marotta D. Ronchi N. Bresolin |
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Affiliation: | 1. Magnetic Resonance Spectroscopy Center, Fondazione Ca'' Granda, Policlinico, University of Milan, Milan, Italy;2. Department of Neurological Sciencies, Fondazione Ca'' Granda, Policlinico, University of Milan, Milan, Italy;3. PET Center-Nuclear Medicine, Fondazione Ca'' Granda, Policlinico, University of Milan, Milan, Italy |
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Abstract: | Mutations in the PINK1 gene are associated with early onset autosomal recessive parkinsonism (EOP), which is characterized by a phenotypic presentation that, although variable, generally overlaps with that of idiopathic Parkinson Disease (PD).The clinical features and brain metabolomics of a patient who was compound heterozygous for the novel association of PINK1 A168P/W437X mutations have been extensively characterized.Apart from a few typical EOP findings, the clinical features and SPECT mostly overlapped with typical idiopathic PD.Brain metabolomics, as examined by magnetic resonance spectroscopy and PET, were clearly distinguishable. |
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