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Open Access Green as soon as Postprint is submitted to ZB.
Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.
J. Neurol. 255, 643-648 (2008)
Homozygous mutations in the PINK1 gene have been shown to cause early-onset parkinsonism. Here, we describe a novel homozygous mutation (Q126P), identified in two affected German sisters with a clinical phenotype typical for PINK1-associated parkinsonism.We analysed lactate, pyruvate, carnitine and acylcarnitine blood levels, lactate levels under exercise and in the cerebrospinal fluid, activity of respiratory chain complexes I-IV in muscle biopsies and proteasomal activity in immortalized lymphoblasts, but found no evidence for mitochondrial or proteasomal dysfunction. MR spectroscopy revealed raised myoinositol levels in the basal ganglia of both patients, reflecting possible astroglial proliferation.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
parkinson; PINK1; genetics; MR spectroscopy
Language
english
Publication Year
2008
HGF-reported in Year
2008
ISSN (print) / ISBN
0340-5354
e-ISSN
1432-1459
Journal
Journal of Neurology
Quellenangaben
Volume: 255,
Issue: 5,
Pages: 643-648
Publisher
Springer
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)
POF-Topic(s)
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-500700-001
Scopus ID
44449099088
Erfassungsdatum
2008-10-21