The first genetically confirmed Japanese patient with mucolipidosis type IV

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‐reacti...

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Detalles Bibliográficos
Autores principales: Saijo, Harumi, Hayashi, Masaharu, Ezoe, Takanori, Ohba, Chihiro, Saitsu, Hirotomo, Kurata, Kiyoko, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856247/
https://www.ncbi.nlm.nih.gov/pubmed/27190617
http://dx.doi.org/10.1002/ccr3.540
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author Saijo, Harumi
Hayashi, Masaharu
Ezoe, Takanori
Ohba, Chihiro
Saitsu, Hirotomo
Kurata, Kiyoko
Matsumoto, Naomichi
author_facet Saijo, Harumi
Hayashi, Masaharu
Ezoe, Takanori
Ohba, Chihiro
Saitsu, Hirotomo
Kurata, Kiyoko
Matsumoto, Naomichi
author_sort Saijo, Harumi
collection PubMed
description 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.
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spelling pubmed-48562472016-05-17 The first genetically confirmed Japanese patient with mucolipidosis type IV Saijo, Harumi Hayashi, Masaharu Ezoe, Takanori Ohba, Chihiro Saitsu, Hirotomo Kurata, Kiyoko Matsumoto, Naomichi Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2016-04-13 /pmc/articles/PMC4856247/ /pubmed/27190617 http://dx.doi.org/10.1002/ccr3.540 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Saijo, Harumi
Hayashi, Masaharu
Ezoe, Takanori
Ohba, Chihiro
Saitsu, Hirotomo
Kurata, Kiyoko
Matsumoto, Naomichi
The first genetically confirmed Japanese patient with mucolipidosis type IV
title The first genetically confirmed Japanese patient with mucolipidosis type IV
title_full The first genetically confirmed Japanese patient with mucolipidosis type IV
title_fullStr The first genetically confirmed Japanese patient with mucolipidosis type IV
title_full_unstemmed The first genetically confirmed Japanese patient with mucolipidosis type IV
title_short The first genetically confirmed Japanese patient with mucolipidosis type IV
title_sort first genetically confirmed japanese patient with mucolipidosis type iv
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856247/
https://www.ncbi.nlm.nih.gov/pubmed/27190617
http://dx.doi.org/10.1002/ccr3.540
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