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,
