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Prestel, J.* ; Gempel, K.* ; Hauser, T.K.* ; Schweitzer, K.* ; Prokisch, H. ; Ahting, U. ; Freudenstein, D.* ; Bueltmann, E.* ; Naegele, T.* ; Berg, D.* ; Klopstock, T.* ; Gasser, T.*

Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.

J. Neurol. 255, 643-648 (2008)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
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
Corresponding Author
Keywords parkinson; PINK1; genetics; MR spectroscopy
ISSN (print) / ISBN 0340-5354
e-ISSN 1432-1459
Journal Journal of Neurology
Quellenangaben Volume: 255, Issue: 5, Pages: 643-648 Article Number: , Supplement: ,
Publisher Springer
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)