Abstracts from the Fourth International Symposium on Neuroacanthocytosis
July 1-2, 2008
London and Oxford
Chairs: Prof. Kailash Bhatia, MD, FRCP, Institute of Neurology, University College London; Prof. Anthony P. Monaco, MD, PhD, Wellcome Trust Centre for Human Genetics, University of Oxford
Organizers: Antonio Velayos-Baeza, PhD; Susanne Schneider, MD; Glenn Irvine
1-3 International efforts at case collection ("Virtual Institute")
A. Danek, and B. Bader
Neurologische Klinik, Ludwig-Maximilians-Universität, Munich, Germany
For more than fifteen years we have collected - with the generous support of physicians world-wide - chart data on individual patients (presently >150) affected by neuroacanthocytosis syndromes in order to delineate disease features and natural history. In addition to the data on McLeod syndrome (Danek et al. 2001) information on 106 cases with a diagnosis of chorea-acanthocytosis (ChAc) based on VPS13A mutation analysis has been evaluated (Danek et al., 2009).
For a more systematic, prospective approach we now concentrate on ChAc after the Western blot for chorein became available as a diagnostic tool (Dobson-Stone et al. 2004). Since 2007 we have fully analyzed 110 blood samples from patients with suspected ChAc, sent in from all continents, and made a positive diagnosis in 42 new cases. This service is offered at no cost thanks to the support of Advocacy for Neuroacanthocytosis Patients (www.naadvocacy.org), but in return we ask for clinical data on the affected patients, collected according to a protocol newly set up with a group of neuroacanthocytosis specialists and to be entered locally by the physician in charge.
This patient registry forms a submodule within the European Huntington's disease network (www.euro-hd.net/html/na/submodule/registry). In addition to the data collection according to standardized questionnaires and scales, a systematic documentation of the patients´ movement disorder, filmed according to a teaching video available for download, is encouraged. We also consider possibilities for uploading neuroimaging data.
The registry will be opened for data entry in July 2008 and eventually aims at allowing therapeutic studies for ChAc patients. Due to the rarity of the disease such studies critically depend on global collaboration. This can now be comfortably provided by our web-based platform, a "virtual institute" for neuroacanthocytosis information, research and treatment.