Open AccessThe first genetically confirmed Japanese patient with mucolipidosis type IV
Author(s) -
Saijo Harumi,
Hayashi Masaharu,
Ezoe Takanori,
Ohba Chihiro,
Saitsu Hirotomo,
Kurata Kiyoko,
Matsumoto Naomichi
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.540
Subject(s) - missense mutation , medicine , mutation , genetics , gene , biology
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 MCOLN 1 . We detected the localized increase in p62‐reactive astrocytes in the basal ganglia.