Diseases Studied

POLR3-related leukodystrophy

Alternative Names: 4H

Disease Category: Leukodystrophies

A type of leukodystrophy caused by mutations in the POLR3 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. Also known as 4H, this disorder is the combination of hypomyelination (low production of myelin), hypogonadotropic hypogonadism (low production of sex hormones), and hypodontia (low or abnormal development of teeth). People with 4H leukodystrophy often experience motor problems, including muscle and join stiffness as well as problems with balance and coordination. They may also have movement disorders, including tremor or difficulty controlling smooth movements of their arms and legs. As infants, they may have delay in teething or have teeth appear in an unusual order. They are usually small for their age, and they do not go through typical puberty.

Research groups studying this disease