title: Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
abstract: Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation carriers (2 patients, 1 control). Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation.
authors.affiliation: Department of Human Genetics, University of Lübeck, Lübeck, Germany.
authors.forename: Katja
authors.initials: K
authors.lastname: Hedrich
authors.forename: Peter P
authors.initials: PP
authors.lastname: Pramstaller
authors.forename: Katrin
authors.initials: K
authors.lastname: Stübke
authors.forename: Anja
authors.initials: A
authors.lastname: Hiller
authors.forename: Kemal
authors.initials: K
authors.lastname: Kabakci
authors.forename: Sabine
authors.initials: S
authors.lastname: Purmann
authors.forename: Meike
authors.initials: M
authors.lastname: Kasten
authors.forename: Cesa
authors.initials: C
authors.lastname: Scaglione
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schwinger
authors.forename: Jens
authors.initials: J
authors.lastname: Volkmann
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kostic
authors.forename: Peter
authors.initials: P
authors.lastname: Vieregge
authors.forename: Paolo
authors.initials: P
authors.lastname: Martinelli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Abbruzzese
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Christine
authors.initials: C
authors.lastname: Zühlke
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology; D012333:RNA, Messenger / Q000096:biosynthesis; D016601:RNA-Binding Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D012737:Sex Factors; D018911:Trinucleotide Repeats / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; D016601:RNA-Binding Proteins; D044767:Ubiquitin-Protein Ligases; C497683:FMR1 protein, human; C111567:parkin protein