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Parkinson's disease (PD) is a genetically heterogeneous disorder and new putative disease genes are discovered constantly. Therefore, whole‐exome sequencing could be an efficient approach to genetic testing in PD. To evaluate its performance in early‐onset sporadic PD, we performed diagnostic exome sequencing in 80 individuals with manifestation of PD symptoms at age 40 or earlier and a negative family...
Die Bedeutung einer möglichst frühzeitigen und korrekten Diagnose der REM-Schlafverhaltensstörung („REM sleep behaviour disorder“; RBD) ergibt sich einerseits aus der in den letzten Jahren wachsenden Evidenz für RBD als präklinischem Marker einer Synukleinopathie, die womöglich künftig neuroprotektiv moduliert werden kann. Andererseits kann eine RBD bei bereits neurodegenerativ erkrankten Patienten...
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