Clinical neurogenetics and neuroimaging

Department of Neurology

Group Members

Norbert Brüggemann (Group leader)
Jannik Prasuhn (Clinician scientist, PhD student)
Johanna Junker (Clinician scientist)
Magdalena Baaske (Clinician scientist)
Julia Steinhardt (PostDoc)
Tabea Hammes (PhD Student)
Vera Tadic (Senior Neurologist)
Katharina Balschus (Parkinson Assistant)

Research Interests

We are interested in diagnostic, pathophysiological and therapeutic aspects of movement disorders. A special focus is placed to genetic forms of dystonia and Parkinson’s disease. Monogenic forms of movement disorders provide the unique advantage that disease mechanisms can be studied in a more homogeneous group of patients. In addition, investigating non-manifesting mutation carriers provides knowledge on disease stages that precede the onset of motor manifestations of movement disorders. This is particularly relevant for Parkinson’s disease where neurodegeneration occurs long before the first motor symptoms become obvious. With regard to therapeutic interventions, we are interested in translational clinical trials based in monogenic movement disorders and in the mode of actions of deep brain stimulation.

Research methods:

  • Quantification of movements using wearable sensors and 3D cameras
  • Structural and functional MR imaging, MRSI
  • Transcranial sonography
  • Optic coherence tomography in collaboration with the eye hospital
  • Genotype-phenotype correlations

Collaborations

  • Daniela Berg, University Medical Center Schleswig-Holstein, Campus Kiel
  • Cid Diesta, Makati Medical Center Manila, Philippines
  • Raymond Rosales, University of Santo Tomas, Philippines
  • Peter Pramstaller, European Academy Bolzano, Italy
  • Hartwig Siebner, University of Copenhagen, Denmark

Publications

  1. Gisatulin M, Dobricic V, Zühlke C, Hellenbroich Y, Tadic V, Münchau A, Isenhardt K, Bürk K, Bahlo M, Lockhart PJ, Lohmann K, Helmchen C, Brüggemann N. Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes. Neurology 2020, in press. doi.org/10.1212/WNL.0000000000010744
  2. Hanssen H, Steinhardt J, Münchau A, Al-Zubaidi A, Tzvi E, Heldmann M, Schramm P, Neumann A, Rasche D, Saryyeva A, Voges J, Galazky I, Büntjen L, Heinze HJ, Krauss JK, Tronnier V, Münte TF, Brüggemann N (2019) Cerebello-striatal interaction mediates effects of subthalamic nucleus deep brain stimulation in Parkinson's disease. Parkinsonism Relat Disord. 2019;67:99-104.
  3. Hanssen H, Prasuhn J, Heldmann M, Diesta CC, Domingo A, Göttlich M, Blood AJ, Rosales RL, Jamora RDG, Münte TF, Klein C, Brüggemann N. Imaging gradual neurodegeneration in a basal ganglia model disease. Ann Neurol 2019;86(4):517-526.
  4. Brüggemann N, Domingo A, Rasche D, Moll CKE, Rosales RL, Jamora RDG, Hanßen H, Münchau A, Graf J, Weissbach A, Tadic V, Diesta CC, Volkmann J, Kühn AA, Münte TF, Tronnier V, Klein C. Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. JAMA Neurol 2019; 76(2):211-216.
  5. Hanssen H, Heldmann M, Prasuhn J, Tronnier V, Rasche D, Diesta CC, Domingo A, Rosales RL, Jamora RD, Klein C, Münte TF, Brüggemann N. Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism. Brain 2018;141(10):2995-3008