Bhatia, Kailash; Balint, Bettina; (2023) Autoimmunity panels: Needs and implementation in the underdeveloped regions and how to approach the disparities. Movement Disorders Clinical Practice 10.1002/mdc3.13946. (In press).

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Abstract

Similar to the advances in genetics of Movement disorders (MD), there has also been an explosion in the advances in autoimmune conditions causing movement disorders (AIMD).1, 2 In genetics, the diagnosis has been based on gene panels, exome sequencing and next-generation sequencing. Similarly, there have been major advances with regard to the different antibodies which cause movement disorders, and obviously antibody panels are important in diagnosing these conditions. There is an overlap between different antibodies causing one particular form of movement disorders and vice versa. What is crucial and unlike most genetic disorders, most neuronal antibody-mediated MD conditions are eminently treatable, particularly those with autoantibodies targeting surface antigens, (such as anti-NMDAR, CASPR2, LGI1 etc.), but there are also implications for the paraneoplastic antibody-related MD to look out for occult neoplasms and to treat/remove those if possible.3, 4 Early recognition is important from the treatment perspective and outcomes. It is important to note that the diagnosis of antibody-related movement disorders is based on serum and CSF analysis. There are several different techniques for assessing the presence of antibodies including cell-based assays, immunoblots, enzyme-linked immunosorbent assay (ELISA), and immunohistochemistry on brain tissue.2, 5 Most of the discoveries of antibodies have been made in western countries. However, even in the West, autoantibody testing is mainly available in larger centers or referral units under national health schemes, but also available privately through some commercial laboratories. However, the tests are generally expensive, and many laboratories offer only few antibodies. Many newly discovered antibodies may be available only in reference laboratories, perhaps where they may have first been discovered.6-8 Taking the UK as an example, antibody tests are available in major centers such as Oxford, London, Sheffield, Newcastle through the NHS, and these are referral hubs providing services to others. An ERN-EAN-collaboration is being mooted to determine the burden of autoimmune neurological disease in Europe and the availability of investigations and therapies, and there is a possibility that some countries, particularly in Eastern Europe, may be poorly provided in this regard.

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