Diseases Studied

Alpers Syndrome

Alternative Names: Progressive Infantile Poliodystrophy; Progressive Cerebral Poliodystrophy; Diffuse Cerebral Degeneration in Infancy; Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis

Disease Category: Mitochondrial Disorders

A rare, progressive, neurological disorder characterized by loss of gray matter (nerve cell bodies) in the brain and severe liver disease. Signs typically manifest between 3 months to 5 years of age, including: psychomotor regression (loss of cognitive and motor abilities), seizures that are resistant to medications, and liver damage. Other manifestations include: spasticity (muscle rigidity), hyperreflexia (exaggerated reflexes), ataxia (lack of coordination), muscle twitching, partial paralysis (decreased movement), jaundice, cirrhosis, optic nerve atrophy (wasting), and blindness. The cause is genetic, but liver dysfunction may be triggered by environmental factors particularly administration of valproic acid.

Research groups studying this disease