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

被引：8

作者：

Rango, M. ^{[1
,2
]}

Arighi, A. ^{[1
,2
]}

Marotta, G.

Ronchi, D. ^{[2
,3
]}

Bresolin, N. ^{[1
,2
]}

机构：

[1] Univ Milan, Magnet Resonance Spect Ctr, Fdn Ca Granda, Milan, Italy

[2] Univ Milan, Dept Neurol Sci, Fdn Ca Granda, Milan, Italy

[3] Univ Milan, PET Ctr Nucl Med, Fdn Ca Granda, Milan, Italy

来源：

MITOCHONDRION | 2013年 / 13卷 / 01期

关键词：

PINK1; MRS; PET; Parkinson; Mitochondria; Resting state connectivity; MUTATIONS;

D O I：

10.1016/j.mito.2012.10.004

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页码：59 / 61

页数：3

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