We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Microphthalmia and brain atrophy: A novel neurodegenerative disease.
- Authors
Øivind J. Kanavin; Monika Haakonsen; Andrès Server; Tariq J. Bajwa; Marjo S. van der Knaap; Petter Strømme
- Abstract
To delineate the features of a novel neurodegenerative disease.We report three children of three related families with congenital microphthalmia and blindness, and progressive spasticity, microcephaly, seizures, and profound mental retardation.A magnetic resonance imaging scan was normal at birth. However, follow‐up studies showed progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extended into the subcortical region leaving only small islands of remaining cortical tissue. Known metabolic conditions involving white matter degeneration were excluded.We propose this to be a novel autosomal recessive neurodegenerative disorder to be coined MOBA (microphthalmia brain atrophy) disease. Ann Neurol 2006;59:719–723
- Subjects
NEURODEGENERATION; MAGNETIC resonance imaging; VISION disorders; DIAGNOSTIC imaging
- Publication
Annals of Neurology, 2006, Vol 59, Issue 4, p719
- ISSN
0364-5134
- Publication type
Article