Alpers' Disease

What is Alpers' Disease?

Alpers' disease is a rare, genetically determined disease of the brain that causes progressive degeneration of grey matter in the cerebrum. The first sign of the disease usually begins early in life with convulsions. Other symptoms are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs), dementia, and liver conditions such as jaundice and cirrhosis that can lead to liver failure. Optic atrophy may also occur, often causing blindness. Researchers believe that Alper's disease is caused by an underlying metabolic defect. A number of individuals with Alper's disease have mutations in the "polymerase-gama" gene, which results in the depletion of mitochondrial DNA. Researchers suspect that Alpers' disease is sometimes misdiagnosed as childhood jaundice or liver failure, since the only method of making a definitive diagnosis is by autopsy or brain biopsy after death.

Is there any treatment?

What is the prognosis?

What research is being done?

NIH Patient Recruitment for Alpers' Disease Clinical Trials

• At NIH Clinical Center
• Throughout the U.S. and Worldwide

Organizations

http://www.ninds.nih.gov/disorders/alpersdisease/alpersdisease.htm