A.J. van der Kooi MD PhD

MD PhD A.J. van der Kooi

Position

Medical Specialist

Main activities

Patient care, Research

Specialisation

Neuromuscular disorders, general neurology

Focus of research

The Department of Neurology performs clinical and translational research within three research themes: infection & inflammation, cerebrovascular disorders, and movement disorders. The themes are imbedded in the nine translational research programs of Amsterdam Neuroscience, the research institute of neuroscience investigators in the Amsterdam area. All staff members of the Department of Neurology are involved in research and collaborate within Neuroscience Amsterdam, with other academic and non-academic hospitals, and with international research groups.

Infection and inflammation. We perform clinical translational research in the field of neurological infections & inflammation. We perform prospective clinical cohort studies, randomized clinical trials, and experimental research, combining our clinical expertise with groundbreaking, translational approaches using clinical data, human samples, next generation sequencing, in vitro techniques, and mouse models in the era's of bacterial meningitis & encephalitis, infections after stroke, septic encephalopathy, and inflammatory diseases of peripheral nerves and muscles.

Neuromuscular disorders. Our neuromuscular centre is a NFU (Nederlandse federatie van universitaire medische centra) and ERN (European reference network) accredited center for neuromuscular diseases in general, and motor neuron disease (ALS), idiopathic inflammatory myopathy, poliomyelitis, hereditary neuropathies and inflammatory polyneuropathies in particular. Inflammatory diseases of peripheral nerves and muscles are the main focus of the neuromuscular research-line, within the research area neuro-infection and inflammation. The immune mediated neuropathies (e.g. GBS, CIDP, MMN) and idiopathic inflammatory myopathies (e.g. dermatomysositis, IBM) and critical illness neuropathy and myopathy are the specific diseases of interest. This research is patient-driven and translational. More specific, clinical trials, cohort studies and studies investigating immunological and genomic characterization of nerve and muscle inflammation are performed. From these studies we try to arrive at clinically relevant biomarkers of disease activity and predictors of response. For the critical illness neuromyopathies early predictors for disease and outcome are sought.
Improving the diagnostic and therapeutic options available to these patients are thus the starting point. The prevention of nerve and muscle damage and the improvement of the regenerative capacity are some of the key areas for the near future.

Since the completion of my Neurology training in 2000 I have been working as a neurologist, with a special interest in neuromuscular diseases and neuroimmunology. In daily practice, I see patients with all kinds of neuromuscular disease, such as motor neuron disease, myopathies and neuropathies. My specific area of interest is idiopathic inflammatory myopathies (myositis). Other areas of expertise include hereditary neuropathies and limb girdle muscular dystrophies, neurological manifestations of sarcoidosis and various inflammatory neuropathies (GBS, MMN, vasculitis).

Amsterdam UMC Research Institutes

AMC departments

Neurology

Key publications

Gerards Mike, van den Bosch Bianca, Calis Chantal, Schoonderwoerd Kees, van Engelen Klaartje, Tijssen Marina, de Coo René, van der Kooi Anneke, Smeets Hubert Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy Mitochondrion 2010;10 (5):510-515 [PubMed]
van Es Michael A., Veldink Jan H., Saris Christiaan G. J., Blauw Hylke M., van Vught Paul W. J., Birve Anna, Lemmens Robin, Schelhaas Helenius J., Groen Ewout J. N., Huisman Mark H. B., van der Kooi Anneke J., de Visser Marianne, Dahlberg Caroline, Estrada Karol, Rivadeneira Fernando, Hofman Albert, Zwarts Machiel J., van Doormaal Perry T. C., Rujescu Dan, Strengman Eric, Giegling Ina, Muglia Pierandrea, Tomik Barbara, Slowik Agnieszka, Uitterlinden Andre G., Hendrich Corinna, Waibel Stefan, Meyer Thomas, Ludolph Albert C., Glass Jonathan D., Purcell Shaun, Cichon Sven, Nöthen Markus M., Wichmann H.-Erich, Schreiber Stefan, Vermeulen Sita H. H. M., Kiemeney Lambertus A., Wokke John H. J., Cronin Simon, McLaughlin Russell L., Hardiman Orla, Fumoto Katsumi, Pasterkamp R. Jeroen, Meininger Vincent, Melki Judith, Leigh P. Nigel, Shaw Christopher E., Landers John E., Al-Chalabi Ammar, Brown Robert H., Robberecht Wim, Andersen Peter M., Ophoff Roel A., van den Berg Leonard H. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis Nature genetics 2009;41 (10):1083-U53 [PubMed]
van der Kooi A. J., Frankhuizen W. S., Barth P. G., Howeler C. J., Padberg G. W., Spaans F., Wintzen A. R., Wokke J. H. J., van Ommen G.-J. B., de Visser M., Bakker E., Ginjaar H. B. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families Neurology 2007;68 (24):2125-2128 [PubMed]
van Deutekom Judith C., Janson Anneke A., Ginjaar Ieke B., Frankhuizen Wendy S., Aartsma-Rus Annemieke, Bremmer-Bout Mattie, den Dunnen Johan T., Koop Klaas, van der Kooi Anneke J., Goemans Nathalie M., de Kimpe Sjef J., Ekhart Peter F., Venneker Edna H., Platenburg Gerard J., Verschuuren Jan J., van Ommen Gert-Jan B. Local dystrophin restoration with antisense oligonucleotide PRO051 New England journal of medicine 2007;357 (26):2677-2686 [PubMed]
van der Kooi Anneke J., de Voogt Willem G., Bertini Enrico, Merlini Luciano, Talim F. Beril, Ben Yaou Rabah, Urtziberea Andoni, de Visser Marianne Cardiac and pulmonary investigations in Bethlem myopathy Archives of neurology 2006;63 (11):1617-1621 [PubMed]