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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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. |
format | Online Article Text |
id | pubmed-9370123 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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