DNA sequencing reveals cause of rare neurological disorder

Written by Annie Coulson (Editor)

After a 25-year-long search, a new sequencing technique has helped researchers pinpoint the genetic cause of SCA4, a rare movement disorder.

Spinocerebellar ataxia 4 (SCA4) is a rare genetic condition that severely impacts the lives of those affected by the disease. Like many other rare diseases, there is no known cure for SCA4, and until now, no known cause. Now, after 25 years of searching, a multi-institutional group of researchers led by a team at the University of Utah (UT, USA) has discovered the genetic difference that causes SCA4, providing families with much-needed answers and offering hope for potential treatments.

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