This website provides information on patients with mutations in the RPIAgene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the RPIAgene is a multisystem disorder characterized by:
• Progressive leukoencephalopathy with diffuse white matter abnormalities
• Developmental delay and psychomotor regression
• Epilepsy
• Cerebellar ataxia, spasticity, and motor dysfunction
• Elevated polyols (ribitol and D-arabitol) in body fluids
Not all individuals with a mutation in the RPIAgene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the RPIAgene.
Vikram Bhise, MD, Rutgers, New Brunswick, New Jersey, United States, rwjmschildneurology@rwjms.rutgers.edu
Milen Velinov, MD, PhD, Rutgers, New Brunswick, New Jersey, United States, mv662@rwjms.rutgers.edu
RPIA