title: The first genetically confirmed Japanese patient with mucolipidosis type IV.
abstract: 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.
authors.affiliation: Departments of Pediatrics Tokyo Metropolitan Higashiyamato Medical Center for developmental/multiple disabilities Tokyo Japan.
authors.forename: Harumi
authors.initials: H
authors.lastname: Saijo
authors.affiliation: Department of Brain Development and Neural Regeneration Tokyo Metropolitan Institute of Medical Science Tokyo Japan.
authors.forename: Masaharu
authors.initials: M
authors.lastname: Hayashi
authors.affiliation: Departments of Pediatrics Tokyo Metropolitan Higashiyamato Medical Center for developmental/multiple disabilities Tokyo Japan.
authors.forename: Takanori
authors.initials: T
authors.lastname: Ezoe
authors.affiliation: Department of Human Genetics Graduate School of Medicine Yokohama City University Yokohama Japan.
authors.forename: Chihiro
authors.initials: C
authors.lastname: Ohba
authors.affiliation: Department of Human Genetics Graduate School of Medicine Yokohama City University Yokohama Japan.
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.affiliation: Departments of Pediatrics Tokyo Metropolitan Higashiyamato Medical Center for developmental/multiple disabilities Tokyo Japan.
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Kurata
authors.affiliation: Department of Human Genetics Graduate School of Medicine Yokohama City University Yokohama Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
keywords: Autophagy; MCOLN1; mucolipidosis type IV; neuropathology; p62