This website provides information on patients with mutations in the APOPT1 (COA8) gene (OMIM *616003), including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the APOPT1 (COA8) gene is a multisystem disorder characterized by Cavitating leukoencephalopathy and mitochondrial complex IV deficiency (OMIM #220110). The clinical phenotype includes other symptoms such as acute or subacute neurological regression with loss of developmental milestones including the ability to walk and talk and presenting somnolence, spastic tetraparesis, ataxia and sensorimotor polyneuropathy. The clinical course tends to stabilize or partially improve after the acute episode(s). Some individuals with a mutation in the APOPT1 (COA8) gene have milder clinical features, although the leukoencephalopathy and the decrease of COX activity are constant findings.
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 APOPT1 (COA8) gene.
Erika Fernandez-Vizarra, PhD, MRC-Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK, firstname.lastname@example.org
Massimo Zeviani, MD, PhD, MRC-Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK, email@example.com