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Microphthalmia and brain atrophy: A novel neurodegenerative disease
Author(s) -
Kanavin Øivind J.,
Haakonsen Monika,
Server Andrès,
Bajwa Tariq J.,
van der Knaap Marjo S.,
Strømme Petter
Publication year - 2006
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20827
Subject(s) - corpus callosum , white matter , atrophy , microphthalmia , medicine , pathology , magnetic resonance imaging , brainstem , microcephaly , spasticity , neuroscience , psychology , biology , pediatrics , physical medicine and rehabilitation , radiology , biochemistry , gene
Objective To delineate the features of a novel neurodegenerative disease. Methods We report three children of three related families with congenital microphthalmia and blindness, and progressive spasticity, microcephaly, seizures, and profound mental retardation. Results 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. Interpretation We propose this to be a novel autosomal recessive neurodegenerative disorder to be coined MOBA ( m icr o phthalmia b rain a trophy) disease. Ann Neurol 2006;59:719–723