Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
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.
Hedrich
Katja
K
Department of Human Genetics, University of Lübeck, Lübeck, Germany.
Pramstaller
Peter P
PP
Stübke
Katrin
K
Hiller
Anja
A
Kabakci
Kemal
K
Purmann
Sabine
S
Kasten
Meike
M
Scaglione
Cesa
C
Schwinger
Eberhard
E
Volkmann
Jens
J
Kostic
Vladimir
V
Vieregge
Peter
P
Martinelli
Paolo
P
Abbruzzese
Giovanni
G
Klein
Christine
C
Zühlke
Christine
C
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*
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