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Polyneuropathy

Our department is a tertiary referral center for patients with polyneuropathy. Approximately 1500 new patients are seen at the outpatient clinic of Utrecht for neuromuscular diseases every year, including around 500 patients with polyneuropathy. Polyneuropathy has its focus on clinical research in cohorts of well-phenotyped patients. We have one of the largest populations of patients with multifocal motor neuropathy (MMN), polyneuropathy associated IgM MGUS, and chronic idiopathic axonal polyneuropathy (CIAP). The research is internationally renowned for MMN, MGUS polyneuropathy and CIAP and several grants from the Prinses Beatrix Spierfonds and NWO were obtained.

CIAP

The concept of chronic idiopathic axonal polyneuropathy (CIAP) as a separate disease entity was outlined in the UMC Utrecht. In the past years we have investigated immune-mediated Sjögren’s syndrome, non-systemic vasculitis, MGUS, CIDP, hereditary polyneuropathy and ageing. Currently the role of cardiovascular disease and factors such as the metabolic syndrome in the pathogenesis of CIAP are being investigated. Hypertension and abdominal obesitas have been identified as risk factors.

Clinical neurophysiology research

The focus of the clinical neurophysiology research is directed to (i) standardization of electrodiagnostic methods and procedures, and (ii) assessment of ion channel dysfunction in peripheral nerves by excitability studies.

MGUS

The focus of the monoclonal gammopathy of undetermined significance (MGUS) neuropathy research was directed at the development of criteria, the prognosis and treatment of MGUS neuropathy and the relation between demyelination and axon loss in IgM neuropathy. Currently, we investigate the role of autoantibodies and which biomarkers (immunological, genetic, or electrophysiological) predict a beneficial clinical response to treatment with Rituximab in patients with IgM neuropathy.

Multifocal motor neuropathy

Multifocal motor neuropathy is an important, treatable mimic of motor neuron disease. The presence of conduction block, antibodies to the GM1 ganglioside and response to immune-modulating treatment with intravenous immunoglobulins (IVIg) suggest an immune-mediated pathogenesis. In our national MMN database and biobank we have collected biosamples (DNA, serum) as well as clinical, electrophysiological and immunological data from over 100 patients. In multiple research projects, resulting in many papers in high impact international journals, we aim(ed) to understand the (immune) pathogenesis of MMN and to study the response to treatment in patients.

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