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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
parkinson; PINK1; genetics; MR spectroscopy
ISSN (print) / ISBN
0340-5354
e-ISSN
1432-1459
Zeitschrift
Journal of Neurology
Quellenangaben
Band: 255,
Heft: 5,
Seiten: 643-648
Verlag
Springer
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)