Sensorimotor Integration in Monogenic Parkinson-dystonia Syndromes

Hereditary Parkinson and dystonia syndromes are rare, as are people who carry the predisposition for Parkinson or dystonia but do not have symptoms. It is particularly important to study these people because they are a good model for understanding the development of common non-hereditary Parkinson's and dystonia. To do this, we want to look at how the brain works and how different areas of the brain communicate with each other. We want to identify differences in brain regions connecting perception and action between mutation carriers that develop clinical symptoms and those who stay healthy in different subgroups of inherited Parkinson-dystonia syndromes. Mutation carriers with and without symptoms of three different inherited Parkinson-dystonia syndromes will be investigated at their homes with the help of a mobile examination unit. To detect even subtle signs, which the mutation carriers might not even be aware of, we will use a detailed video-based and -documented movement examination and a non-invasive magnetic stimulation technique that investigates how a sensory, i.e., electrical stimulus can influence the motor response in a hand muscle. Our study will allow us, on the one hand, to define specific markers that protect some mutation carriers from having clinical symptoms and, on the other hand, to identify neurophysiological characteristics that all mutation carriers share whether or not they have clinical symptoms. These are important information for a better understanding of the basis of these disorders and for the development of new treatment strategies, which can also be transferred to genetically-undefined Parkinson's and dystonia syndromes. Through our study, we will build up large groups of mutation carriers that have received an in-depth clinical and neurophysiological examination and can be investigated longitudinally in future studies.

Inclusion criteria for mutation carriers:Pathogenic Parkin, PINK1, GCH1, or TAF1 gene variantAge >18 yearsInformed consentInclusion criteria for healthy control participants:No movement disorderAge >18 yearsInformed consentNo medication with influences on the central nervous systemExclusion Criteria:Age <18 yearsPregnancyEpilepsyMedication that reduces the seizure threshold