Publications by authors named "C Fons"
Creatine transporter deficiency (CRTR-D) is a rare X-linked inherited disease belonging to the group of cerebral creatine deficiency disorders. Major clinical features include developmental delay and epilepsy. To date, fewer than 200 individuals with CRTR-D have been reported.
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- The study focused on establishing continuous reference intervals for cerebrospinal fluid (CSF) biomarkers homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA), which are important for diagnosing neurological diseases related to dopamine and serotonin.
- Utilizing data from a large cohort of pediatric patients, researchers created age-specific models to define these intervals more accurately, addressing the issue of not having healthy control groups.
- The results showed that the continuous reference intervals reduced the number of secondary deficiencies identified and found no significant links between HVA and 5-HIAA levels and the effects of antiepileptic or neuroleptic medications, indicating that these biomarkers may not always correlate with neurological disorders.
Children and Adolescent Patients with Variants in the -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.
medRxiv
October 2024
Article Synopsis
- Alternating hemiplegia of childhood (AHC) is a rare disorder linked with neurological and heart issues, particularly the ATP1A3-D801N variant, which causes a shorter QT interval and arrhythmia risks.
- A study at Duke University evaluated heart rate (HR) and QT intervals in individuals with AHC, revealing that those with the variant had less QT prolongation at lower HR compared to healthy controls.
- The findings suggest that individuals with ATP1A3-D801N show abnormal heart rhythms, indicating a need for closer monitoring and intervention for potential heart issues.
Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome.
Neurol Neuroimmunol Neuroinflamm
September 2024
Objectives: To report the association of zinc finger and SCAN domain containing 1 antibodies (ZSCAN1-abs) with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome in patients without tumor.
Methods: Patients with symptoms compatible with ROHHAD syndrome but without an associated tumor were selected from our database. Serum and CSF samples were examined for the presence of ZSCAN1-abs by an in-house cell-based assay.
Background And Purpose: Primary mitochondrial diseases (PMDs) are common inborn errors of energy metabolism, with an estimated prevalence of one in 4300. These disorders typically affect tissues with high energy requirements, including heart, muscle and brain. Epilepsy may be the presenting feature of PMD, can be difficult to treat and often represents a poor prognostic feature.
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