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.

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]

PINK1 parkinsonism and Parkinson disease : distinguishable brain mitochondrial function and metabolomics

M. Rango
Primo
;
A. Arighi
Secondo
;
G. Marotta;D. Ronchi
Penultimo
;
N. Bresolin
Ultimo
2013

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.
Mitochondria; MRS; Parkinson; PET; PINK1; Resting state connectivity
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/253960
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