Sensorimotor Integration in Monogenic Parkinson-dystonia Syndromes

Summary

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, the investigators want to look at how the brain works and how different areas of the brain communicate with each other. The investigators 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, the investigators 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 the investigators, 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 this study, large groups of mutation carriers that have received an in-depth clinical and neurophysiological examination and can be investigated longitudinally in future studies will be build up.

Conditions

• Parkinson
• Dystonia
• DYT3
• DYT5
• PINK1 Gene Deletion
• Dystonia, Familial

Interventions

DEVICE

Transcranial magnetic stimulation (TMS)

TMS over the left primary motor cortex will be performed. To investigate sensorimotor integration, an electrical stimulus on the right index finger will precede the TMS pulse.

OTHER

Video-based clinical examination

A standardized neurological examination will be performed and video taped. The videos will be rated by movement disorder specialists, wo are blinded for the symptom and mutation status of the participants.

OTHER

24 hours drug withdrawal of dopaminergic medication

Examinations will be done under chronic dopaminergic treatment and after a 24 hours dopaminergic drug withdrawal.

OTHER

Evaluation of deep brain stimulation

Examinations will be done before and after implantation of deep brain stimulation (clinically optimal stimulation vs. switched off stimulation)

Sponsors & Collaborators

• Michael J. Fox Foundation for Parkinson's Research

  collaborator OTHER

• University Hospital Schleswig-Holstein

  lead OTHER

Principal Investigators

• Anne Weissbach, MD · Institute of Systems Motor Science

Eligibility

Min Age

18 Years

Max Age

100 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2023-01-01

Primary Completion

2024-06-30

Completion

2024-12-31

Countries

• Germany

Study Locations