Ataxia is a motor disorder with relatively little research performed in the paediatric age group. We have therefore set up an international group, which is open to any interested clinician, to discuss and promote clinical and research issues. Colleagues from paediatrics, neurology, therapy, nursing and any other relevant specialty are welcome.
A group of European clinicians met for the first time at the EPNS research meeting in Leuven in December 2010, and several times since. This group is convened by Professor Maja Steinlin, Bern, Switzerland and Dr Peter Baxter, Sheffield, UK. It does not have a formal structure such as a secretary etc., nor does it have any subscriptions. It is entirely self financing as attendees pay for themselves.
A cerebellar interest group met at the International Childhood Neurology Congress Brisbane, Australia in 2012, organised by Dr Michael S. Salman, Associate Professor, Winnipeg, Manitoba, Canada. After discussions it was agreed to set up an informal international group, with this web page as a common contact point.
So far the European group has reviewed available ataxia rating scales and then validated the SARA ataxia rating scale in children of different ages. Until now there has not been any valid scale for clinical or research use in children, nor any age related norms. This work has been led by Dr Deborah Sival and colleagues.
The group has supported the recently successful E-Rare “Transnational Research Projects on Rare Diseases” bid to fund the ‘PREPARE’ (Preparing for therapies in autosomal recessive ataxias) project which includes setting up a database for early onset ataxia. CACG centres will be invited to obtain local ethical approval to contribute cases. This has been led by Professor Matthis Synofzik.
The Italian study of Cerebellar and Brain Stem abnormalities (Dr Enza Maria Valente) also has links to the group.
Meetings are held once or twice a year either as part of an EPNS related event such as the Congress or Research meeting or as a stand alone meeting.
The next meeting of the European group will be at the EPNS Research Meeting in Essen, 28-29 October 2016. Anyone who is interested in attending please contact Maja Steinlin (Maja.Steinlin@insel.ch) or Peter Baxter (email@example.com ) as above.
Current research projects seeking patients are listed below:
Cerebellar and brainstem congenital defects (CBCD) study: contact Ginevra Zanni: firstname.lastname@example.org.
PREPARE project: Matthis Synofzik: email@example.com