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Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies

Cerebral folate deficiency syndrome (CFDS) is defined as any neuropsychiatric or developmental disorder characterized by decreased CSF folate levels in the presence of normal folate status outside the nervous system. The specific clinical profile appears to be largely determined by the presence or a...

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Autores principales: Ramaekers, Vincent Th., Quadros, Edward V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9370123/
https://www.ncbi.nlm.nih.gov/pubmed/35956272
http://dx.doi.org/10.3390/nu14153096
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author Ramaekers, Vincent Th.
Quadros, Edward V.
author_facet Ramaekers, Vincent Th.
Quadros, Edward V.
author_sort Ramaekers, Vincent Th.
collection PubMed
description Cerebral folate deficiency syndrome (CFDS) is defined as any neuropsychiatric or developmental disorder characterized by decreased CSF folate levels in the presence of normal folate status outside the nervous system. The specific clinical profile appears to be largely determined by the presence or absence of intrauterine folate deficiency as well as postnatal age at which cerebral folate deficiency occurs. The primary cause of CFDS is identified as the presence of serum folate receptor-alpha (FRα) autoantibodies impairing folate transport across the choroid plexus to the brain whereas, in a minority of cases, mitochondrial disorders, inborn errors of metabolism and loss of function mutations of the FRα (FOLR1) gene are identified. Early recognition and diagnosis of CFDS and prompt intervention is important to improve prognosis with successful outcomes. In this article we focus on FRα autoimmunity and its different age-dependent clinical syndromes, the diagnostic criteria, and treatments to be considered, including prevention strategies in this at-risk population.
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spelling pubmed-93701232022-08-12 Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies Ramaekers, Vincent Th. Quadros, Edward V. Nutrients Review Cerebral folate deficiency syndrome (CFDS) is defined as any neuropsychiatric or developmental disorder characterized by decreased CSF folate levels in the presence of normal folate status outside the nervous system. The specific clinical profile appears to be largely determined by the presence or absence of intrauterine folate deficiency as well as postnatal age at which cerebral folate deficiency occurs. The primary cause of CFDS is identified as the presence of serum folate receptor-alpha (FRα) autoantibodies impairing folate transport across the choroid plexus to the brain whereas, in a minority of cases, mitochondrial disorders, inborn errors of metabolism and loss of function mutations of the FRα (FOLR1) gene are identified. Early recognition and diagnosis of CFDS and prompt intervention is important to improve prognosis with successful outcomes. In this article we focus on FRα autoimmunity and its different age-dependent clinical syndromes, the diagnostic criteria, and treatments to be considered, including prevention strategies in this at-risk population. MDPI 2022-07-28 /pmc/articles/PMC9370123/ /pubmed/35956272 http://dx.doi.org/10.3390/nu14153096 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Ramaekers, Vincent Th.
Quadros, Edward V.
Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies
title Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies
title_full Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies
title_fullStr Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies
title_full_unstemmed Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies
title_short Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies
title_sort cerebral folate deficiency syndrome: early diagnosis, intervention and treatment strategies
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9370123/
https://www.ncbi.nlm.nih.gov/pubmed/35956272
http://dx.doi.org/10.3390/nu14153096
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