Canavan Disease Overview
Learn About Canavan Disease
- Canavan disease
- ACY2 deficiency
- ASP deficiency
- ASPA deficiency
- Aminoacylase 2 deficiency
- Aspartoacylase deficiency
- Canavan-van Bogaert-Bertrand disease
- Spongy degeneration of the central nervous system
- Von Bogaert-Bertrand disease
Massachusetts General Physicians Organization Inc
Florian Eichler is a Neurologist in Boston, Massachusetts. Dr. Eichler is rated as an Elite provider by MediFind in the treatment of Canavan Disease. His top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, Tay-Sachs Disease, Gangliosidosis, and Gastrostomy. Dr. Eichler is currently accepting new patients.
Annette Bley practices in Hamburg, Germany. Ms. Bley is rated as an Elite expert by MediFind in the treatment of Canavan Disease. Her top areas of expertise are Canavan Disease, CACH Syndrome, Leukodystrophy, and Metachromatic Leukodystrophy.
David Pleasure is a Neurologist in Sacramento, California. Dr. Pleasure is rated as an Elite provider by MediFind in the treatment of Canavan Disease. His top areas of expertise are Canavan Disease, CACH Syndrome, Leukodystrophy, and Periventricular Leukomalacia.
Summary: Canavan Disease is a congenital white matter disorder caused by mutations to the gene encoding for aspartoacylase (ASPA). Expression of ASPA is restricted to oligodendrocytes, the sole white matter producing lineage in the brain. ASPA supports myelination in the capacity of its sole known function, namely, the catabolism of N-acetylaspartate (NAA). Inherited mutations that result in loss of ASPA c...
Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center