AGRE Researcher James Millonig and colleagues have published a
genetic association study focusing on a gene called ENGRAILED2
(EN2), which is involved in the formation of the brain during
early stages of post natal development. Specifically, EN2 was
shown in several studies, to be essential for the proper
formation of specific types of cells called Purkinje cells in
the cerebellum. Eliminating this gene in mice reduced the number
of these types of cells in the cerebellum. Remarkably,
individuals with autism have reduced levels of these Purkinje
cells in the cerebellum, a brain structure involved in
activities such as learning and language acquisition. These
activities are often a source of difficulty for individuals with
autism. Previous genetic evidence had shown that a gene in the
vicinity of EN2, if not EN2 itself, had a statistical likelihood
of being involved in autism. In 2001, scientists at Columbia
University and UCLA, among others, carried out a genome scan on
110 families who participated in the AGR