EMINA - European Multidisciplinary Initiative on Neuroacanthocytosis
- Sprecher: Prof. Adrian Danek
- Einrichtung: Neurologische Klinik und Poliklinik
- Förderung: seit 2010 bis 2014
EMINA was the initiative of six university laboratories from five countries coordinated by Prof. Adrian Danek (Ludwig-Maximilians-Universität, Munich, Germany). Apart from the coordinator, two further partners, Prof. Francois Tison and Dr. Zuhal Yapici, came from clinical medicine (University of Bordeaux, France and University of Istanbul, Turkey, respectively). The remaining three partners dealt with basic science topics: Prof. Rainer Prohaska (Medical University of Vienna, Austria), Prof. Giel Bosman (Radboud University, Nijmegen, The Netherlands), and Prof. Ody Sibon (University Medical Centre Groningen, The Netherlands). The group´s common goal was to reach a clearer understanding of the clinical features and molecular underpinnings of neuroacanthocytosis (NA) syndromes. This group of hereditary diseases is defined by the presence of neurological symptoms and abnormally shaped (“acanthocytic”) red blood cells and shares features with Huntington’s disease.
EMINA has provided these major results:
- Standardized video examinations of patients suspected to suffer from NA were generated for systematic evaluation to identify core clinical features in the course of disease.
- A database of both, blood samples and clinical features, of neuroacanthocytosis patients was set up. Database and blood samples is available for future collaborating partners.
- The long-term outcome of deep brain stimulation (DBS) in patients suffering from one NA subtype, chorea-acanthocytosis (ChAc), was evaluated. The report makes suggestions for the future cautious use of DBS focussed on the internal globus pallidus in ChAc.
- A collection of ChAc brain and muscle tissue was generated and is available for further research at the Munich brain bank.
- The neuropathology of ChAc was investigated extensively. Apart from stereologic and immunohistochemical studies of brain, muscle tissue was analysed and the level of chorein in various peripheral human tissues was measured.
- Membrane properties of the abnormally shaped have been analysed and described.
- The protein network of ChAc erythrocytes was analysed and possible interacting partners of chorein, the protein mutated inb ChAc, were identified.
- A drosophila model of ChAc was newly developed and is further studied in the follow-up project EMINA-2 (also supported by E-Rare).
Quelle: ERA-Net for Research Programmes on Rare Diseases