Fragile X syndrome.

Adult Ataxia / genetics Autistic Disorder Female Fragile X Mental Retardation Protein / chemistry Fragile X Syndrome / genetics Humans Male Mutation Tremor / genetics

Journal

Current biology : CB
ISSN: 1879-0445
Titre abrégé: Curr Biol
Pays: England
ID NLM: 9107782

Informations de publication

Date de publication:
22 03 2021
Historique:
entrez: 23 3 2021
pubmed: 24 3 2021
medline: 27 1 2022
Statut: ppublish

Résumé

Paul Hagerman and Randi Hagerman introduce the X-linked neurodevelopmental disorder Fragile X syndrome (FXS) and discuss what causes this disorder and how it can be treated.

Identifiants

DOI: 10.1016/j.cub.2021.01.043 PMID: 33756134
pubmed: 33756134
pii: S0960-9822(21)00076-2
doi: 10.1016/j.cub.2021.01.043
pii:
doi:

Substances chimiques

FMR1 protein, human 0
Fragile X Mental Retardation Protein 139135-51-6

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

R273-R275

Subventions

Organisme : NICHD NIH HHS
ID : R01 HD036071
Pays : United States

Informations de copyright

Copyright © 2021 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests P.J.H. is a member of the Scientific Advisory Board of NeuCyte Pharmaceuticals, Inc. R.H. is a member of the Scientific and Clinical advisory committee of the National Fragile X Foundation (NFXF). R.H. is also on the Clinical Treatments Committee of the NFXF. R.H. is on the Tetra Advisory Committee and the Zynerba Scientific Advisory Committee.

Auteurs

Paul J Hagerman (PJ)

Department of Biochemistry and Molecular Medicine and UC Davis MIND Institute, University of California, Davis, School of Medicine, One Shields Avenue, Davis, CA 95616, USA. Electronic address: pjhagerman@ucdavis.edu.

Randi Hagerman (R)

Department of Pediatrics and UC Davis MIND Institute, University of California, Davis, Health System, 2825 50th Street, Sacramento, CA 95817, USA.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Fragile X syndrome.
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Ataxie › Fragile X syndrome.
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Troubles généralisés du développement de l'enfant › Trouble du spectre autistique › Trouble autistique › Fragile X syndrome.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéine du syndrome X fragile › Fragile X syndrome.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Retard mental lié à l'X › Syndrome du chromosome X fragile › Fragile X syndrome.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Fragile X syndrome.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Fragile X syndrome.
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Tremblement › Fragile X syndrome.