Testing a genetic tool to diagnose recessive ataxia
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study checks how well a computer algorithm (called RADIAL) can find the cause of autosomal recessive cerebellar ataxia using genetic information. It may help confirm diagnoses when the genetic cause is still unknown and other causes have already been ruled out.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have cerebellar ataxia that started before age 40
- Your family history fits a recessive pattern (examples: consanguinity, multiple affected siblings, or a single sporadic case)
- Doctors have already ruled out other acquired (non-genetic) causes of cerebellar ataxia
- Your genetic diagnosis is not known yet (or you only know you tested negative for Friedreich’s disease gene)
- You are able to speak, read, and consent in French (or a parent/tutor can for children)
- You have not already had targeted gene panel or whole exome/genome sequencing done
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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