Identification of defective gene causing a form of childhood Parkinsonism

Researchers led by BRC-supported Dr Karin Tuschl in collaboration with Dr Esther Meyer have discovered that a form of childhood Parkinsonism is caused by a defective gene encoding a metal transporter called SLC39A14Research was carried out in a cohort of children with excessive accumulation of manganese in the blood and the brain leading to rapidly progressive childhood-onset parkinsonism-dystonia. Findings showed that these patients carried a loss-of-function mutation in SLC39A14, which affects the body’s ability to clear manganese. Promisingly, these elevated levels of manganese were found to be lessened by a manganese-binding drug called disodium calcium edetate, which acts to increase urinary manganese excretion.

These findings could help facilitate correct diagnosis of patients with this disease, as well as facilitating counselling for families for future pregnancies. Furthermore, these findings also provide a potential avenue for effective treatment and have been published in Nature Communications