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PMID: 18286320 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Journal of neurology ·Vol. 255 ·No. 5 ·2008-05-00 ·Pages 643-8

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

Abstract

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.

MeSH Terms
Adult Aged Basal Ganglia/metabolism,pathology,physiopathology Biomarkers/analysis,blood Cell Line DNA Mutational Analysis Energy Metabolism/genetics Female Genetic Markers/genetics Genetic Predisposition to Disease/genetics Genetic Testing Germany Gliosis/diagnosis,genetics,metabolism Heterozygote Homozygote Humans Inositol/analysis,metabolism Magnetic Resonance Spectroscopy Male Middle Aged Mitochondrial Diseases/blood,diagnosis Muscle, Skeletal/metabolism,physiopathology Mutation/genetics Parkinson Disease/drug therapy,genetics,physiopathology Pedigree Protein Kinases/genetics
Chemicals
Biomarkers Genetic Markers Inositol Protein Kinases PTEN-induced putative kinase
Authors & Affiliations
12 authors, click to expand affiliations / ORCID
Prestel Jügen
Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases, University of Tuebingen, Hoppe-Seyler-Str. 3, 72076 Tuebingen, Germany.
Gempel Klaus
Hauser Till-Karsten
Schweitzer Katherine
Prokisch Holger
Ahting Uwe
Freudenstein Dirk
Bueltmann Eva
Naegele Thomas
Berg Daniela
Klopstock Thomas
Gasser Thomas
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Article Info
Journal
Journal of neurology
Abbr.
J Neurol
ISSN
0340-5354
DOI
10.1007/s00415-008-0763-4
Published
2008-05-00
Epub
2008-00-21
Pages
643-8
Language
English
Region
Germany
NLM ID
0423161
Subset
IM
External Links
PubMed source DOI: 10.1007/s00415-008-0763-4 View journal details
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