Many chronic and paroxysmal neurological disorders are still unexplained. Despite the increase in knowledge in genetical and clinical profiles, the pathophysiology linking these two together is lacking in many cases. The aim of our studies focuses on the deciphering and modulation of the underlying molecular, neurobiological, and neurophysiological mechanisms for (A) paroxysmal cerebral disorders and (B) neurological motor disorders.
Our research approach is mainly characterised by the triad:
- Genes: genetic predisposition;
- Function: functional and mechanistic consequences of genetic changes;
- Phenotype: clinical expression and consequences of treatment.
An example of translational basic science is our finding that the same calciumchannel dysfunction is implicated in familial hemiplegic migraine and in the Lambert-Eaton myasthenic syndrome.
The first disorder is genetic, paroxysmal and affects the central nervous system; the second is auto-immune, chronic and concerns the neuromuscular synapse. This and other results justify our broad clinical and technical approach of several chronic progressive neurodegenerative and paroxysmal disorders with chronic consequences.
Research lines are categorised according to their two modes of expression: paroxysmal, episodic disorders and chronic, largely degenerative ones. Paroxysmal disorders count migraine and other headaches, narcolepsy and syncope. Among degenerative disorders, the complex regional pain syndrome and autoimmune neuromuscular diseases are relative newcomers, while Huntington's, Parkinson's and Alzheimer’s diseases are long-established subjects.
In the LUMC collaboration on Neuroscience is organized in “Neurowetenschappen”, which is in close collaboration with the Trans faculty Leiden Initiative of brain and cognition.