A study by researchers at Weill Cornell Medicine-Qatar (WCM-Q) has revealed a new genetic cause of ataxia and the implications it has for marriage.
Because cerebellar ataxia is often an inherited disease, it could have major implications for the consanguineous marriages that are common in Qatar. When the mutated gene that causes the disorder is expressed in a recessive manner, both parents have to have the same recessive gene for some of their children to be affected. Since genes are inherited, it is much more likely that people within an extended family carry the same genes. Therefore, a consanguineous marriage within a family who carry the mutated recessive gene is much more likely to lead to cerebellar ataxia in the children of that marriage.
The study was launched after a young woman visited her clinician with symptoms of cerebellar ataxia. Her brother was also found to have the disorder and the researchers asked if they, and their extended family, would take part in research to examine the genetic cause.
Annals of Neurology, January 2017, Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia, M. Elsaid et al., 10.1002/ana.24826