Matches in SemOpenAlex for { <https://semopenalex.org/work/W2079679600> ?p ?o ?g. }
Showing items 1 to 50 of
50
with 100 items per page.
- W2079679600 endingPage "S28.007" @default.
- W2079679600 startingPage "S28.007" @default.
- W2079679600 abstract "Objective: We provide evidence demonstrating that CSF 5-MTHF decreases over time and in some cases, very quickly. Hence, progressive neurologic symptoms may indicate the development of Cerebral Folate Deficiency (CFD), even if prior determinations were normal. Background The cerebral folate deficiency (CFD) syndrome describes any neurological condition where low levels of CSF 5-methyltetrahydrofolate (5-MTHF) are found within the CNS and where systemic folate levels are normal. CFD can be primary (inherited defect), or secondary (as in mitochondrial disease or an autoimmune disorder). In practice, once CSF 5-MTHF levels are measured, clinicians generally consider CFD excluded if levels are normal. Design/Methods: Nine children were identified with progressive neurologic symptoms that included epilepsy, movement disorders, and neurobehavioral difficulties. Previously documented CSF 5-MTHF levels were normal in all (>50 nmol/L). Eight of nine were scored as Probable or Highly Probably Mitochondrial Disease using the Nijmegen Diagnostic Criteria (Neurology 2002;59:1402). Results: CSF 5-MTHF levels dropped by 44.2% in an average of 37 months, with a majority dropping into the abnormal range. The most dramatic of these was a 50% reduction in CSF 5-MTHF in 9 months. Data regarding treatment outcomes will be presented. Conclusions: Findings suggest that CSF 5-MTHF levels are not static over time and repeat assessment of CSF 5-MTHF should be considered in patients with progressive neurologic abnormalities. Supported by: Medical Neurogenetics, LLC. Disclosure: Dr. Starnes has received personal compensation for activities with Medical Neurogenetics, LLC as an employee. Dr. Shoffner has received personal compensation for activities with Medical Neurogenetics, LLC. Dr. Shoffner holds stock and/or stock options in Medical Neurogenetics, LLC. Dr. Hyland has received personal compensation for activities with Medical Neurogenetics as co-owner.Dr. Hyland has received compensation for serving as the vice president of Medical Neurogenetics.Dr. Hyland has received research support from National Institute of Health and Neurotransmitter Disease Foundation." @default.
- W2079679600 created "2016-06-24" @default.
- W2079679600 creator A5035073907 @default.
- W2079679600 creator A5047130319 @default.
- W2079679600 creator A5049928573 @default.
- W2079679600 date "2012-04-22" @default.
- W2079679600 modified "2023-09-26" @default.
- W2079679600 title "Rapid and Dramatic Decreases of Cerebral 5-Methyltetrahydrofolate: A Treatable Form of Progressive Neurodegeneration (S28.007)" @default.
- W2079679600 doi "https://doi.org/10.1212/wnl.78.1_meetingabstracts.s28.007" @default.
- W2079679600 hasPublicationYear "2012" @default.
- W2079679600 type Work @default.
- W2079679600 sameAs 2079679600 @default.
- W2079679600 citedByCount "0" @default.
- W2079679600 crossrefType "journal-article" @default.
- W2079679600 hasAuthorship W2079679600A5035073907 @default.
- W2079679600 hasAuthorship W2079679600A5047130319 @default.
- W2079679600 hasAuthorship W2079679600A5049928573 @default.
- W2079679600 hasConcept C142724271 @default.
- W2079679600 hasConcept C15744967 @default.
- W2079679600 hasConcept C169760540 @default.
- W2079679600 hasConcept C2776925932 @default.
- W2079679600 hasConcept C2779134260 @default.
- W2079679600 hasConcept C71924100 @default.
- W2079679600 hasConceptScore W2079679600C142724271 @default.
- W2079679600 hasConceptScore W2079679600C15744967 @default.
- W2079679600 hasConceptScore W2079679600C169760540 @default.
- W2079679600 hasConceptScore W2079679600C2776925932 @default.
- W2079679600 hasConceptScore W2079679600C2779134260 @default.
- W2079679600 hasConceptScore W2079679600C71924100 @default.
- W2079679600 hasIssue "Meeting Abstracts 1" @default.
- W2079679600 hasLocation W20796796001 @default.
- W2079679600 hasOpenAccess W2079679600 @default.
- W2079679600 hasPrimaryLocation W20796796001 @default.
- W2079679600 hasRelatedWork W1493996106 @default.
- W2079679600 hasRelatedWork W1974297080 @default.
- W2079679600 hasRelatedWork W1995797290 @default.
- W2079679600 hasRelatedWork W2111495287 @default.
- W2079679600 hasRelatedWork W2179205971 @default.
- W2079679600 hasRelatedWork W2487609709 @default.
- W2079679600 hasRelatedWork W2517534055 @default.
- W2079679600 hasRelatedWork W2600384234 @default.
- W2079679600 hasRelatedWork W2969353500 @default.
- W2079679600 hasRelatedWork W3125725193 @default.
- W2079679600 hasVolume "78" @default.
- W2079679600 isParatext "false" @default.
- W2079679600 isRetracted "false" @default.
- W2079679600 magId "2079679600" @default.
- W2079679600 workType "article" @default.