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Premutations in the FMR1 gene as a modifying factor in Parkin‐associated Parkinson's disease? |
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| Authors: | Katja Hedrich Peter P Pramstaller Katrin Stübke Anja Hiller Kemal Kabakci Sabine Purmann Meike Kasten Cesa Scaglione Eberhard Schwinger Jens Volkmann Vladimir Kostic Peter Vieregge Paolo Martinelli Giovanni Abbruzzese Christine Klein Christine Zühlke |
| Affiliation: | Department of Human Genetics, University of Lübeck, Lübeck, Germany. |
| 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. |
| Keywords: | FMR1 parkinsonism CGG repeat Parkin mutation |