Huntington's disease and brain development

Huntington's disease is a rare inherited neurological disorder that generally manifests in mild-adulthood. The disease is characterized by the dysfunction and the degeneration of specific brain structures leading progressively to psychiatric, cognitive and motor disorders. The disease is caused by a mutation in the gene coding for huntingtin and, although it appears in adulthood, embryos carry the mutated gene from their development in utero. Studies based on mouse models and human stem cells have reported altered developmental mechanisms in disease conditions. However, does the mutation affect development in humans? Focusing on the early stages of brain development in human fetuses carrying the HD mutation, we have identified abnormalities in the development of the neocortex, the structure that ensure higher cerebral functions. Altogether, these studies suggests that developmental defects could contribute to the onset symptoms in adults, changing the perspective on disease and thus the health care of patients.