Donders Institute for Brain, Cognition and Behaviour
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Theme 2: Perception, Action and Control

Rare and Genetic Movement Disorders

Donders Institute for Brain, Cognition and Behaviour

Van de Warrenburg's research focuses on the rare, genetic movement disorders. This is done firstly identifying new genes for ataxia, hereditary spastic paraplegia, and other movement disorders, by studying clinicogenetic correlations in these diseases, and by investigating molecular mechanisms in appropriate model systems. He then moves on to use patients with (the genetic predisposition to) these movement disorders to unravel the system-level brain mechanisms that underlie these motor disorders and to explore the potential compensatory mechanisms that might be exploited as treatment targets.

Contact
Name: Bart van de Warrenburg
Telephone: 024-3613396 (secretariat)
Email: b.vandewarrenburg@radboudumc.nl
Fax: 024-3541122
Visiting address: Department of Neurology
Radboud University Nijmegen Medical Centre
Reinier Postlaan 4
6525 GC Nijmegen
The Netherlands
Postal address: Department of Neurology
Radboud University Nijmegen Medical Centre
P.O. Box 9101
6500 HB Nijmegen
The Netherlands
Projects
  • Collaborative projects with European partners on recessive ataxias (PREPARE) and SCA3/MJD (ESMI)
  • Systematic modeling of recessive ataxias with Drosophila
  • Cerebellar changes and compensation in presymptomatic SCA3 mutation carriers
  • Whole exome sequencing in patients with cerebellar ataxia, hereditarry spastic paraplegia, and other movement disorders
  • The cerebral effects of gait adaptability training in SCA3 patients
  • Identifying cerebral mechanisms that underlie dystonic tremor
Key grants and prizes
  • 2016 H2020/E-rare (PREPARE project)
  • 2016 Hersenstichting (tremor project)
  • 2015 JPND (ESMI project)
  • 2014 Radboudumc (Drosophila project)
  • 2012 Gossweiler Foundation (preclinical SCA3 project)
• 2011 Biemond award Dutch Neurological Society
Key publications
  • Van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ.Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. Eur J Hum Genet 2016;24:1460-1466.
  • Aerts MB, Weterman AJ, Quadir M, Schelhaas HJ, Bloem BR, Esselink RA, Baas F, Bonifati V, van de Warrenburg BP. A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson’s disease. Ann Clin Transl Neurol 2015;3:146-149.
  • Linssen MW, van Gaalen J, Munneke MA, Hoffland BS, Hulstijn W, van de Warrenburg BP. A single session of cerebellar theta burst stimulation does not alter writing performance in writer's cramp. Brain 2015;138:e355.
  • Delnooz CCS, Pasman JW, Beckmann CF, van de Warrenburg BP. Task-free functional MRI in cervical dystonia reveals multi-network changes that partially normalize with botulinum-toxin. PLoS One 2013;8:e62877.
  • Sun Y, Almomani R, Breedveld G, Santen GWE, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit JA. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in neuronal ceroid lipofuscinosis 2 disease (CLN2). Hum Mutation 2013;34:706-713
  • Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia and chronic liver disease. Am J Hum Genet 2012;90:467-477
  • De Bot ST, Willemsen MAAP, Vermeer S, Kremer HPH, van de Warrenburg BP. Reviewing the genetic causes of spastic ataxias. Neurology 2012;79:1507-1514.
  • van Gassen KLI, van der Heijden CDCC, de Bot ST, den Dunnen WFA, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HPH, Veldink JH, Kamsteeg, EJ, Scheffer H, van de Warrenburg BP. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. Brain 2012;135:2994-3004.

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Research Theme 2:
Perception, Action and Decision-making

Donders
Research Group
Rare and Genetic Movement Disorders

Principal Investigator
Dr. B.P.C. van de Warrenburg

Group members

PhD
Ilse Eidhof
Judith van Gaalen
Karen Huisman
Bas van Lith
Roderick Maas
Nienke van Os

Postdoc
Freek Nieuwhof