Stopped: Due To Covid-19 there were delays in the arrival of patients to the sites. Due to the rare disease in the study population, no patients who met the inclusion/exclusion criteria were found, and the study was terminated early due to these reasons.
The prevalence of CTX in our country is estimated to be 1 / 50.000. The aim of this study is to screen more volunteers by conducting a larger screening from neurology and pediatric metabolism clinics in Turkey. This observational study was designed retrospectively and prospectively in two stages. In the retrospective section, the patient database and / or patient files will be screened in the neurology and pediatric metabolism clinics and the patients aged 40 and below in the neurology clinics with at least two of the following will be enrolled to the study: * Ataxia and / or spasticity * Bilateral cataract (except senile cataract) * Intellectual limitation * Non-enhancing hyperintensity on T2 sections in MR imaging of dentate nuclei * Autosomal recessive transition pattern. (Ex: Relative Marriage) In the pediatric metabolism centers, cases suspected of CTX and planned to apply the Mignarri Index according to the investigator's opinion will be identified.
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Proportion of patients with CTX possibility in Neurology Clinics
Timeframe: 3 years
Proportion of patients with CTX possibility in Pediatric Metabolism Clinics
Timeframe: 3 years