What Determines Disease Severity in the Spinocerebellar Ataxias?

Detailed analysis reveals different factors that affect disease severity and nonataxia symptoms in the four most common SCA variants.

Spinocerebellar ataxias (SCAs) are caused by mutations in an ever-increasing number of identified genes. The most common types, SCA1, SCA2, SCA3, and SCA6, result from translated CAG-repeat expansion mutations. Despite great progress in understanding the molecular pathogenesis of these disorders, relatively little is known about factors that determine severity and clinical phenotype. Now, researchers have studied clinical severity of these four SCAs in relation to age of onset, repeat length, and disease duration. In 526 patients from 17 medical centers, these investigators measured severity on the recently introduced Scale for the Assessment and Rating of Ataxia (SARA) and number of nonataxia symptoms with the Inventory of Non-Ataxia Sympt…

Reviewing Author

Stefan-M. Pulst, MD, Dr med