International Ataxia Rating Scale in Younger Patients

APPLICABILITY OF THE INTERNATIONAL ATAXIA RATING SCALE (ICARS) IN YOUNGER PATIENTS AND DEVELOPMENT OF GLOBAL RATING INSTRUMENTS FOR PATIENTS WITH ATAXIA TELANGIECTASIA (AT)

The project will collect information on the mapping of clinical ratings on a number of scales that are used in the assessment of patients with ataxias.

Inclusion criteria

1. Patients aged 6-18 years with diagnosed with ataxia, preferably AT will be included. The diagnosis of AT will be made based on the criteria: typical clinical picture plus one of the following: 1. a proven mutation in the ATM gene 2. Deficient ATM protein proven by Western blotting 3. Elevated α-fetoprotein, cerebellar atrophy on MRI and immune deficiency/ chromosomal breakage/ T- cell lymphoreticular malignancy.
2. Children aged 6-18 years with suspected AT (fulfilling partially the above criteria will be included)
3. Children aged 6-18 years with AT like disease, with or without proven mutation in the MRE11 gene will be included
4. Children aged 6-18 years of age with ataxia of other known or unknown etiologies might be included, but their total number should not exceed 20% of the cohort in each site