Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

Autor: Cesa Scaglione, Anja Hiller, Sabine Purmann, Vladimir S. Kostic, Christine Klein, Christine Zühlke, Jens Volkmann, K. Kabakci, Katja Hedrich, Katrin Stübke, Giovanni Abbruzzese, Paolo Martinelli, Peter Vieregge, Eberhard Schwinger, Peter P. Pramstaller, Meike Kasten
Přispěvatelé: Hedrich K., Pramstaller P.P., Stubke K., Hiller A., Kabakci K., Purmann S., Kasten M., Scaglione C., Schwinger E., Volkmann J., Kostic V., Vieregge P., Martinelli P., Abbruzzese G., Klein C., Zuhlke C.
Rok vydání: 2005
Předmět:
Adult
Male
congenital
hereditary
and neonatal diseases and abnormalities
Pathology
medicine.medical_specialty
Parkinson's disease
Adolescent
Genetic Linkage
Ubiquitin-Protein Ligases
DNA Mutational Analysis
Nerve Tissue Proteins
medicine.disease_cause
Parkin
Central nervous system disease
03 medical and health sciences
Fragile X Mental Retardation Protein
0302 clinical medicine
Degenerative disease
Sex Factors
Trinucleotide Repeats
medicine
Humans
RNA
Messenger
Alleles
030304 developmental biology
Aged
Genetics
Aged
80 and over
0303 health sciences
Mutation
Reverse Transcriptase Polymerase Chain Reaction
Parkinsonism
RNA-Binding Proteins
Parkinson Disease
Middle Aged
medicine.disease
FMR1
Magnetic Resonance Imaging
nervous system diseases
Fmr1 gene
Neurology
Fragile X Syndrome
Female
Neurology (clinical)
Psychology
030217 neurology & neurosurgery
Zdroj: Movement disorders : official journal of the Movement Disorder Society. 20(8)
ISSN: 0885-3185
Popis: 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. © 2005 Movement Disorder Society
Databáze: OpenAIRE
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