Objective: Our aim is to create an international database for patients suffering from the rare syndrome of progressive myoclonus ataxia (PMA), containing their clinical, electrophysiological and genetic features.

Background: Recently, a refined definition for the PMA syndrome was proposed, which enabled the authors to create a rather homogenous group of patients.1 Most PMA patients present with ataxia around the age of two years, subsequently develop cortical myoclonus at the age of four years and at the age of six years develop infrequent epilepsy. The genetic causes are numerous (e.g. MYC/ATX-CSTB, MYC/ATX-GORS2, MYC/ATX-NEU1) and we recently added three not earlier reported causative PMA genes(1). To validate the new refined definition and expand the differential diagnosis, collaboration of international centers is necessary to establish a PMA cohort for future research.

Method: The inclusion criteria are the presence of 1) both myoclonus and ataxia, and 2) none or infrequent epilepsy. Infrequent epilepsy is defined as either treatment-responsive, daily seizures for a week or weekly for a month. We will collect features of myoclonus, ataxia and epilepsy (e.g. age of onset, distribution, UMRS / SARA-score, type of seizure, response to therapy), family history, progression of disease, additional pathologic and electrophysiological parameters (EMG, EEG), differentiating neuroradiologic or laboraty biomarkers, and genetic features. Furthermore, if possible, video recordings of the neurological features and epileptic seizures will be collected. PMA patients can be included after informed consent is given. This study is approved by the Medical Ethical Committee of Groningen.

Results: Our preliminary results will be presented during the poster presentation in Nice at the MDS Congress 2019.

Conclusion: With this data we will be able to validate the recently refined definition for the PMA syndrome and describe the clinical, electrophysiological and genetic features. Furthermore, this unique database will form the base for future research regarding the identification of new pathogenic genetic defects and effective therapies in PMA patients.

References: 1. Van der Veen S, Zutt R, Becker CE, Elting JWJ, De Koning TJ and Tijssen MAJ. Progressive Myoclonus Ataxia Time for a New Definition? Mov. Disord. 2018; 33: 1281–1286.

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