TY - JOUR
T1 - PINK1 parkinsonism and Parkinson disease
T2 - Distinguishable brain mitochondrial function and metabolomics
AU - Rango, M.
AU - Arighi, A.
AU - Marotta, G.
AU - Ronchi, D.
AU - Bresolin, N.
PY - 2013/1
Y1 - 2013/1
N2 - 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.
AB - 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.
KW - Mitochondria
KW - MRS
KW - Parkinson
KW - PET
KW - PINK1
KW - Resting state connectivity
UR - http://www.scopus.com/inward/record.url?scp=84873271094&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84873271094&partnerID=8YFLogxK
U2 - 10.1016/j.mito.2012.10.004
DO - 10.1016/j.mito.2012.10.004
M3 - Article
C2 - 23063710
AN - SCOPUS:84873271094
VL - 13
SP - 59
EP - 61
JO - Mitochondrion
JF - Mitochondrion
SN - 1567-7249
IS - 1
ER -