The first genetically confirmed Japanese patient with mucolipidosis type IV

摘要

Key Clinical Message Mucolipidosis type IV (MLIV) is a rare neurodegenerative disorder characterized by severe psychomotor delay and visual impairment. We report the brain pathology in the first Japanese patient of MLIV with a novel homozygous missense mutation in MCOLN1 . We detected the localized increase in p62-reactive astrocytes in the basal ganglia.