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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)59-61
Number of pages3
JournalMitochondrion
Volume13
Issue number1
DOIs
Publication statusPublished - Jan 2013

Keywords

  • Mitochondria
  • MRS
  • Parkinson
  • PET
  • PINK1
  • Resting state connectivity

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Molecular Medicine

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