期刊
MITOCHONDRION
卷 13, 期 1, 页码 59-61出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2012.10.004
关键词
PINK1; MRS; PET; Parkinson; Mitochondria; Resting state connectivity
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 Al68P/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. (c) 2012 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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