PINK1 parkinsonism and Parkinson disease : distinguishable brain mitochondrial function and metabolomics
Articolo
Data di Pubblicazione:
2013
Citazione:
PINK1 parkinsonism and Parkinson disease : distinguishable brain mitochondrial function and metabolomics / M. Rango, A. Arighi, G. Marotta, D. Ronchi, N. Bresolin. - In: MITOCHONDRION. - ISSN 1567-7249. - 13:1(2013 Jan), pp. 59-61. [10.1016/j.mito.2012.10.004]
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Mitochondria; MRS; Parkinson; PET; PINK1; Resting state connectivity
Elenco autori:
M. Rango, A. Arighi, G. Marotta, D. Ronchi, N. Bresolin
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