Neurological disorder linked to inherited genetic mutation

Researchers at Weill Cornell Medicine-Qatar (WCM-Q) recently identified the genetic cause behind the neurological disorder cerebellar ataxia and the implications it has for some marriages.

Cerebellar ataxia affects the brain’s cerebellum and can cause poor walking ability and coordination. According to the WCM-Q study, the cause is a genetic mutation that must be present in both parents in order to bring risk to their children. It is therefore more likely that people in consanguineous families are more at risk of passing on the mutation.

“The study will open a new window for screening for cerebellar ataxia,” Dr. Abdel Aleem said. “It also shows geneticists how important it is to conduct research on all parts of the genome -- both protein-coding and non-coding – when looking for causes of disease. At the national level, because many families here are consanguineous, family members may have the same genetic defect. Therefore, the implications of marriage in such cases should be considered carefully. Genetic counselors can be very helpful in this regard.”

WCM-Q researchers studied the disorder with investigators from Weill Cornell Medicine in New York and Hamad Medical Corporation. Their results were published in the Annals of Neurology,

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Weill Cornell Medicine- Qatar

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