era and his team at University of Antioquia in Medellin have been providing care, support, and now a first prevention trial. At 1,192 mutation carriers, the Colombian cohort is the largest known in the world today.
Affected (black) and unaffected members of a Brazilian family carrying the “Iranian” APP mutation T714A. Courtesy of Leonel Takada.
At the DIAD family meeting, Leonel Takada, University of São Paulo Medical School, showed a poster of the first Brazilian study assessing how frequently mutations can be found in autosomal-dominant AD at his clinic. Of the 17 probands from different families in Takada’s study, five had a mutation in PSEN1, of which four were previously described and one is new. Two probands from unrelated families had the same T714A APP mutation, known as the Iranian mutation. In one of the families, six of eight children of an affected mother had the disease, and the sixth sibling alone passed the mutation on to six of her 10 children (see image above).
Llibre-Guerra, Lopera, Takada, Ana Luisa Sosa-Ortiz of the National Institute of Neurology and Neurosurgery in Mexico City, and Ricardo Allegri of FLENI in Buenos Aires are working with the Alzheimer’s Association to obtain funding for a DIAN site to bring services, research, and eventually also prevention trials to families in this part of the world.
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