title: Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.
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.
authors.affiliation: Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases, University of Tuebingen, Hoppe-Seyler-Str. 3, 72076 Tuebingen, Germany.
authors.forename: Jügen
authors.initials: J
authors.lastname: Prestel
authors.forename: Klaus
authors.initials: K
authors.lastname: Gempel
authors.forename: Till-Karsten
authors.initials: TK
authors.lastname: Hauser
authors.forename: Katherine
authors.initials: K
authors.lastname: Schweitzer
authors.forename: Holger
authors.initials: H
authors.lastname: Prokisch
authors.forename: Uwe
authors.initials: U
authors.lastname: Ahting
authors.forename: Dirk
authors.initials: D
authors.lastname: Freudenstein
authors.forename: Eva
authors.initials: E
authors.lastname: Bueltmann
authors.forename: Thomas
authors.initials: T
authors.lastname: Naegele
authors.forename: Daniela
authors.initials: D
authors.lastname: Berg
authors.forename: Thomas
authors.initials: T
authors.lastname: Klopstock
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
mesh_terms: D000328:Adult; D000368:Aged; D001479:Basal Ganglia / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology*; D015415:Biomarkers / Q000032:analysis / Q000097:blood; D002460:Cell Line; D004252:DNA Mutational Analysis; D004734:Energy Metabolism / Q000235:genetics; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005858:Germany; D005911:Gliosis / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007294:Inositol / Q000032:analysis / Q000378:metabolism; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000097:blood / Q000175:diagnosis; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D010375:Pedigree; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
chemical_list: D015415:Biomarkers; D005819:Genetic Markers; D007294:Inositol; D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase