Paroxysmal Brain Disorders

A large fraction of neurological disorders shows an episodic character; disease attacks come and go. During the attacks, the patients are seriously ill with an enormous social and medical impact. Between the attacks, the patients are normal.

The following LCTN programmes participate:

Neurogenetics; Migraine, Huntington, Alzheimer, CAA 

Principal investigators: Prof.dr A.M.J.M. van den Maagdenberg, Prof.dr S.M. van der Maarel, Dr W.M.C. van Roon, Dr E. Tolner, Dr B. de Vries, Dr. L. van der Weerd | Human Genetics

The department has a strong tradition in Neurogenetics. The perspective to offer reliable diagnostics and ultimately, improved treatment, stimulated the identification of the causative genes for severe neurogenetic disorders, like Alzheimer, CAA, Huntington, and Migraine.The recent challenge of functional genomics have stimulated the generation of in vitro and in vivo models. We now are able to study these diseases in a truly multidisciplinary and translational manner by molecular, (electro)physiological and imaging technologies.

Read more: Neurogenetics; Migraine, Huntington, Alzheimer

Paroxysmal cerebral disorders

Principal investigators: Prof.dr M.D. Ferrari, Prof.dr J.G. van Dijk, Prof.dr A.M. Van den Maagdenberg, Dr G.J. Lammers, Dr G.M. Terwindt, Dr M.J.H. Wermer | Neurology

The programme consists of translational research lines, studying the diagnosis, clinical aspects, epidemiology, socio-economic-impact, structural and functional cerebral consequences, pathophysiology, and treatment of three highly disabling and mechanistically related episodic brain disorders that are primarily characterised by recurring attacks of transient dysfunction of disease-specific parts of the brain which may last from several minutes to several days; migraine, narcolepsy and syncope.

Read more: Parosyxmal crebral disorders

Genetics of disease, diagnosis and treatment

Principal investigators: Dr S.A.M.J. Lesnik-Oberstein, Dr G.W.E. Santen, Dr C. Ruivenkamp | Clinical Genetics

The aim of this program is to apply advanced molecular techniques on neurodevelopmental, neurovascular and neuromuscular disease. The focus is on the identification of new causative genes, as well as elucidating the relevant pathophysiological pathways. This knowledge is then used to develop functional tests to classify  DNA variants. The ultimate goal of this program, however, lies in the development of rational targeted interventions for  these neurogenetic disorders, which we investigate both in vitro and in vivo. Examples of disorders for which these approaches are applied are Coffin-Siris syndrome, a neurodevelopmental disorder and CADASIL, an adult-onset neurovascular disorder.

Read more: Genetics of disease, diagnosis and treatment

Vascular cerebral disorders

Principal investigators: Prof.dr M.D. Ferrari, Prof.dr A.M. van den Maagdenberg, Dr G.M. Terwindt, Dr M.J. Wermer | Neurology; Dr S.A.M.J. Lesnik-Oberstein | Clinical Genetics

This programme focuses on the pathogenesis and treatment of cerebral ischaemia related to migraine, subarachnoid hemorrhage, and rare monogenic neurovascular disorders.

Read more: Vascular cerebral disorders

Neuroimaging

Principal investigators: Prof.dr M. van Buchem, Prof.dr S. Rombouts, Prof.dr B.P.F. Lelieveldt, Prof.dr A. Webb, Dr M. Kruit, Dr J van der Grond, Dr M. van Osch, Dr L. van der Weerd | Radiology

In our research program we study specific diseases of the central nervous system using state-of-the-art imaging technology, with an emphasis on MRI. Since our aim is to develop and apply technologies to solve biomedical questions, our program is characterized by close interactions between themes with a technological and those with a biomedical focus. Our group hosts experts with various backgrounds, such as medicine, physics, chemistry, biology, biomedical sciences, and neuropsychology.

Read more: Neuroimaging