Aggregate formation analysis of GFAP

Alexander Disease / diagnostic imaging Brain / diagnostic imaging Child Female Glial Fibrillary Acidic Protein / genetics Humans Mutation
Aggregation Alexander disease (AxD) Glial fibrillary acidic protein (GFAP) Precocious puberty

Journal

Brain & development
ISSN: 1872-7131
Titre abrégé: Brain Dev
Pays: Netherlands
ID NLM: 7909235

Informations de publication

Date de publication:
Feb 2019
Historique:
received: 10 05 2018
revised: 09 08 2018
accepted: 27 08 2018
pubmed: 15 9 2018
medline: 2 5 2019
entrez: 15 9 2018
Statut: ppublish

Résumé

Alexander disease (AxD) is a neurodegenerative disease in astrocytes caused by a mutation in the gene encoding glial fibrillary acidic protein, GFAP. We herein present the case of a 12-year-old girl who showed intermittent exotropia at 3 years of age and central precocious puberty at 7 years of age. The periventricular and medulla oblongata showed high signal intensity on T2-weighted magnetic resonance imaging. The patient was diagnosed with AxD after direct sequencing revealing a de novo recurrent mutation, c.1246C>T (p.R416W) in GFAP. The transient expression of GFAP

Identifiants

DOI: 10.1016/j.braindev.2018.08.009 PMID: 30213442
pubmed: 30213442
pii: S0387-7604(18)30200-6
doi: 10.1016/j.braindev.2018.08.009
pii:
doi:

Substances chimiques

GFAP protein, human 0
Glial Fibrillary Acidic Protein 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

195-200

Informations de copyright

Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Auteurs

Janyerkye Tulyeu (J)

Deptartment of Pediatrics, Jichi Medical School, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498, Japan.

Moe Tamaura (M)

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.

Eriko Jimbo (E)

Deptartment of Pediatrics, Jichi Medical School, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498, Japan.

Hiroko Shimbo (H)

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.

Kyoko Takano (K)

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

Mizue Iai (M)

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.

Sumimasa Yamashita (S)

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.

Tomohide Goto (T)

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.

Noriko Aida (N)

Radiology, Kanagawa Children's Medical Center, Yokohama, Japan.

Etsuro Tokuhiro (E)

Department of Pediatrics, Odawara Municipal Hospital, Kanagawa, Japan.

Takanori Yamagata (T)

Deptartment of Pediatrics, Jichi Medical School, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498, Japan.

Hitoshi Osaka (H)

Deptartment of Pediatrics, Jichi Medical School, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498, Japan. Electronic address: hosaka@jichi.ac.jp.

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Encéphalopathies métaboliques congénitales › Maladies démyélinisantes héréditaires du système nerveux central › Maladie d'Alexander › Aggregate formation analysis of GFAP
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Aggregate formation analysis of GFAP
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Aggregate formation analysis of GFAP
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines de filaments intermédiaires › Protéine gliofibrillaire acide › Aggregate formation analysis of GFAP
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Aggregate formation analysis of GFAP
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Aggregate formation analysis of GFAP