Research group Rare and genetic movement disorders

Aims

For a prioritized set of rare movements disorders, we aim to:

1. Secure trial-readiness, through natural history and biomarker discovery studies that provide sensitive and relevant outcome measures and inform the design of clinical trials
2. Identify new causes of rare movement disorders and implement these in diagnostic trajectories
3. Generate new insights in molecular and system-level mechanisms, which serve as new disease markers or as leads for therapy
4. Design and test symptomatic and disease-modifying therapies. 

Achievements

• The identification of new movement disorder genes and elaborate phenotype-genotype descriptions
• Showcasing the diagnostic utility of advanced genetic methods in rare movement disorders
• Building a model system platform for CACNA1A that can be exploited for diagnostic and therapeutic studies
• Completion of clinical trials that have investigated non-invasive cerebellar stimulation in SCA3 and training effects in HSP
• Discovery of imaging biomarkers in SCA1 that can serve as surrogate endpoints in clinical trials
• Solid contributions to international ataxia studies, such as ESMI, PREPARE, SPATAX, and PROSPAX

Publications

See the publication list of the research group leader on Web of Science.

• A selection of our publications

  • Maas RPPWM, Garcia-Moreno H, Faber J, Gonzalez C, Schöls L, de Vries JJ, Bushara K, Reetz K, Onyike CU, Jacobi H, Erdlenbruch F, Infante J, Santana MM, Hübener-Schmid J, de Almeida LP, Lima M, Giunti P, Klockgether T; ESMI study group; van de Warrenburg BPC. Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates. Neurobiol Dis 2026;220:107301.
  • Willemse IHJ, van Prooije T, Kapteijns KCJ, van de Warrenburg BPC. Longitudinal Assessment Reveals Stage-Dependent Utility of Digital Motor Markers in SCA1. Mov Disord Clin Pract 2025;12(10):1622-1628. 
  • Rossi M, Stephen CD, Damásio J, Pedroso JL, Kuo SH, Lin CR, Ojo O, El-Jaafary S, Lee WW, Madoev H, Barsottini OGP, Srivastava AK, Klein C, van de Warrenburg BP. Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches. Mov Disord 2025;40(9):1805-1820.
  • van Prooije TH, Kapteijns KCJ, van Asten JJA, Verbeek MM, Scheenen TWJ, van de Warrenburg BP. The predictive validity of pontine volume change in spinocerebellar ataxia type 1 (SCA1). Neurobiol Dis 2025;215:107078. 
  • Reumers SFI, Maas RPPWM, Schutter DJLG, Teerenstra S, Kessels RPC, de Leeuw FE, van de Warrenburg BPC. Cerebellar Transcranial Direct Current Stimulation in the Cerebellar Cognitive Affective Syndrome: A Randomized, Double-Blind, Sham-Controlled Trial. Mov Disord 2025;40(1):121-131.
  • Hommersom MP, Doorn N, Puvogel S, Lewerissa EI, Mordelt A, Ciptasari U, Kampshoff F, Dillen L, van Beusekom E, Oudakker A, Kogo N, Dolga AM, Frega M, Schubert D, van de Warrenburg BPC*, Nadif Kasri N*, van Bokhoven H*. CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability. Brain 2025;148(4):1286-1301.
  • van Prooije TH, Kapteijns KCJ, van Asten JJA, IntHout J, Verbeek MM, Scheenen TWJ, van de Warrenburg BP. Multimodal, Longitudinal Profiling of SCA1 Identifies Predictors of Disease Severity and Progression. Ann Neurol 2024;96(4):774-787. 
  • van de Warrenburg BP, Kamsteeg EJ. The FGF14 gene is a milestone in ataxia genetics. EBioMedicine 2024;100:104994. 
  • Pennings M, Meijer RPP, Gerrits M, Janssen J, Pfundt R, de Leeuw N, Gilissen C, Gardeitchik T, Schouten M, Voermans N, van de Warrenburg B, Kamsteeg EJ. Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies. Eur J Hum Genet 2023;31(6):654-662. 
  • Rossi M, Hamed M, Rodríguez-Antigüedad J, Cornejo-Olivas M, Breza M, Lohmann K, Klein C, Rajalingam R, Marras C, van de Warrenburg BP. Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review. Mov Disord 2023;38(3):368-377.