There has been published an initiative for an international database with the aim
to provide better diagnosing and treatment for patients with congenital and early onset ataxia (EOA-Early Onset Ataxia)
This is planned, at the first glance - for Europe.
Does anyone know if there is a similar project planned for the rest of the world?
Volume 17, Supplement 1, September 2013, Pages S38
Programme and Abstracts of the 10th EPNS Congress
SELECTED POSTER PRESENTATIONS
PP3.6 - 2106
Early onset ataxia – an international database
Steinlin M, Baxter P, Boltshauser E, Brankovic V,
Catsman-Berrevoets CE, Bertini E, Kennedy C, Mancini F,
Nemeth A, Schöls L, Sival D, Synofzik M. Department of
Neuropaediatrics, Development and Rehabilitation, University
Children’s Hospital, Berne, Switzerland – email@example.com
Problems of ataxia are of increasing interest over the last decade.
There are indefinite variable etiologies of congenital and early onset ataxias (EOA)
- only very few clearly defined by genetics and/or pathophysiology.
We aim to improve knowledge in this field by creating a large-scale database that will allow (i)
to identify the frequency of different EOAs, (ii) to assess theirnatural history,and (iii) to establish
a large cohort of unexplained EOA cases that will be accessible for next generation sequencing
technologies to identify both known and novel genes presenting with EOA.
Methods: By a pseudoanomynised, webbased registry we will collect data on children/young adults
with congenital or early onset (start <40years of age) ataxias.
The following data will be registered: demographics; clinical course including SARA
scale, INAS (information on non ataxia symptoms) and quality of life; laboratory and
electrophysiological work up; neuroimaging and genetic results.
DNA should be collected for each patient locally.
Application for collaboration:
Accepted for collaboration are people interested in the field of ataxia
who are either experienced in management/counseling of ataxic patients
or have made other important contribution to the field of ataxia.
Each collaborator has access to his own register data.
By submission and acceptance of a more comprehensive research project
to the steering committee of the EOA group, the necessary data
from the registry for this project will given free to the individual
Application to become a collaborator will have to be submitted
to the steering group EOA.
By an international approach we aim to collect data on children and
young adults with congenital or early onset ataxia – to improve
understanding, form phenomelogical groups, to solve underlying
pathophysiology, to assess the frequency of established genes
and identify novel EOA genes.