PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics.
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.
Magnetic Resonance Spectroscopy Center, Fondazione Ca' Granda, Policlinico, University of Milan, Milan, Italy. mariocristia@yahoo.it
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M
Rango
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Arighi
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G
Marotta
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Ronchi
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Bresolin
D000328:Adult; D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D055442:Metabolome; D008875:Middle Aged; D008928:Mitochondria / Q000502:physiology*; D020734:Parkinsonian Disorders / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D049268:Positron-Emission Tomography; D011494:Protein Kinases / Q000172:deficiency*; D000099202:PTEN-Induced Putative Kinase
D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase