Neurological & psychological aspects of Barth syndrome: Clinical manifestations and potential pathogenic mechanisms.

Acyltransferases / genetics Barth Syndrome / genetics Humans
Barth syndrome Cardiolipin Cognition Mitochondrial disease Neuromuscular Neuropsychology

Journal

Mitochondrion
ISSN: 1872-8278
Titre abrégé: Mitochondrion
Pays: Netherlands
ID NLM: 100968751

Informations de publication

Date de publication:
11 2021
Historique:
received: 27 11 2020
revised: 10 06 2021
accepted: 23 06 2021
pubmed: 2 7 2021
medline: 22 3 2022
entrez: 1 7 2021
Statut: ppublish

Résumé

Barth syndrome is a rare X-linked multisystem mitochondrial disease that is caused by variants in the tafazzin gene leading to deficient and abnormal cardiolipin. Previous research has focused on the cardiomyopathy and neutropenia in individuals with Barth syndrome, yet just as common are the least explored neurological aspects of Barth syndrome. This review focuses on the major neuropsychological and neurophysiological phenotypes that affect the quality of life of individuals with Barth syndrome, including difficulties in sensory perception and feeding, fatigue, and cognitive and psychological challenges. We propose selected pathogenetic mechanisms underlying these phenotypes and draw parallels to other relevant disorders. Finally, avenues for future research are also suggested.

Identifiants

DOI: 10.1016/j.mito.2021.06.011 PMID: 34197965
pubmed: 34197965
pii: S1567-7249(21)00084-2
doi: 10.1016/j.mito.2021.06.011
pii:
doi:

Substances chimiques

Acyltransferases EC 2.3.-
TAFAZZIN protein, human EC 2.3.1.-

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

188-195

Informations de copyright

Copyright © 2021 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Auteurs

Melissa Olivar-Villanueva (M)

Departments of Pediatrics, New York University Grossman School of Medicine, New York, NY, United States.

Mindong Ren (M)

Departments of Anesthesiology, New York University Grossman School of Medicine, New York, NY, United States; Departments of Cell Biology, New York University Grossman School of Medicine, New York, NY, United States.

Colin K L Phoon (CKL)

Departments of Pediatrics, New York University Grossman School of Medicine, New York, NY, United States. Electronic address: colin.phoon@nyulangone.org.

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Acyltransferases › Neurological & psychological aspects of Barth...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme lipidique › Syndrome de Barth › Neurological & psychological aspects of Barth...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Neurological & psychological aspects of Barth...