AI Article Synopsis
- * A case study reveals a 6-year-old girl diagnosed with BPAN through whole exome sequencing, displaying symptoms similar to Rett syndrome and distinct facial features, along with mildly elevated serum enzymes.
- * Brain imaging via T2*-weighted MRI and T2-star weighted angiography (SWAN) confirmed iron accumulation, highlighting the importance of these clinical and imaging features for early BPAN diagnosis.
Article Abstract
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive brain disorders with several distinguishable subtypes. Recently, WDR45 mutations were reported in patients with β-propeller protein-associated neurodegeneration (BPAN), characterized by early intellectual disability followed by delayed progressive motor and cognitive deterioration with onset in the second to third decade. BPAN has a distinct brain magnetic resonance imaging (MRI) pattern showing iron deposition in the globus pallidus and substantia nigra. To date, many of the BPAN patients have been diagnosed in adulthood. Here, we report on 6-year-old girl with BPAN diagnosed by whole exome sequencing. She showed Rett syndrome-like manifestations, a peculiar facial appearance and mildly elevated serum enzymes. Brain iron accumulation was detected by T2*-weighted MRI and T2-star weighted angiography (SWAN). This unique combination of clinical and neuroimaging features may be helpful for early diagnosis of BPAN.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.36779 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Sub-Chronic 30 mg/kg Iron Treatment Induces Spatial Cognition Impairment and Brain Oxidative Stress in Wistar Rats.
Biol Trace Elem Res
January 2025
Laboratory Functional Physiology and Bio-Resources Valorisation, Higher Institute of Biotechnology of Beja, University of Jendouba, Avenue Habib Bourguiba BP 382, 9000, Beja, Tunisia.
Iron overload has been shown to have deleterious effects in the brain through the formation of reactive oxygen species, which ultimately may contribute to neurodegenerative disorders. Accordingly, rodent studies have indicated that systemic administration of iron produces excess iron in the brain and results in behavioral and cognitive deficits. To what extent cognitive abilities are affected and which neurobiological mechanisms underlie those deficits remain to be more fully characterized.
View Article and Find Full Text PDFA Subtype Specific Probe for Targeted Magnetic Resonance Imaging of M2 Tumor-Associated Macrophages in Brain Tumors.
Acta Biomater
January 2025
Department of Radiology and Imaging Sciences, Emory University School of Medicine, Atlanta, Georgia 30322, United States of America; Winship Cancer Institute, Emory University School of Medicine, Atlanta, Georgia 30322, United States of America. Electronic address:
Pro-tumoral M2 tumor-associated macrophages (TAMs) play a critical role in the tumor immune microenvironment (TIME), making them an important therapeutic target for cancer treatment. Approaches for imaging and monitoring M2 TAMs, as well as tracking their changes in response to tumor progression or treatment are highly sought-after but remain underdeveloped. Here, we report an M2-targeted magnetic resonance imaging (MRI) probe based on sub-5 nm ultrafine iron oxide nanoparticles (uIONP), featuring an anti-biofouling coating to prevent non-specific macrophage uptake and an M2-specific peptide ligand (M2pep) for active targeting of M2 TAMs.
View Article and Find Full Text PDFIdentifying disulfidptosis-related biomarkers in epilepsy based on integrated bioinformatics and experimental analyses.
Neurobiol Dis
January 2025
Department of Neurology, the First Affiliated Hospital of Guangxi Medical University, Guangxi Medical University, Nanning, Guangxi, China. Electronic address:
One of the underlying mechanisms of epilepsy (EP), a brain disease characterized by recurrent seizures, is considered to be cell death. Disulfidptosis, a proposed novel cell death mechanism, is thought to play a part in the pathogenesis of epilepsy, but the exact role is unclear. The gene expression omnibus series (GSE) 33,000 and GSE63808 datasets were used to search for differentially expressed disulfidptosis-related molecules (DE-DRMs).
View Article and Find Full Text PDFPeripheral blood immune cells from individuals with Parkinson's disease or inflammatory bowel disease share deficits in iron storage and transport that are modulated by non-steroidal anti-inflammatory drugs.
Neurobiol Dis
January 2025
Center for Translational Research in Neurodegenerative Disease, College of Medicine, University of Florida, Gainesville, FL, USA; Department of Neuroscience, College of Medicine, University of Florida, Gainesville, FL, USA; McKnight Brain Institute, University of Florida, Gainesville, FL, USA; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA. Electronic address:
Parkinson's Disease (PD) is a multisystem disorder in which dysregulated neuroimmune crosstalk and inflammatory relay via the gut-blood-brain axis have been implicated in PD pathogenesis. Although alterations in circulating inflammatory cytokines and reactive oxygen species (ROS) have been associated with PD, no biomarkers have been identified that predict clinical progression or disease outcome. Gastrointestinal (GI) dysfunction, which involves perturbation of the underlying immune system, is an early and often-overlooked symptom that affects up to 80 % of individuals living with PD.
View Article and Find Full Text PDFQuantitative susceptibility mapping of iron deposition in sporadic cerebral cavernous malformation-related epilepsy.
Epilepsia
January 2025
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Objective: To evaluate iron deposition patterns in patients with cerebral cavernous malformation-related epilepsy (CRE) using quantitative susceptibility mapping (QSM) for detailed analysis of iron distribution associated with a history of epilepsy and severity.
Methods: This study is part of the Quantitative Susceptibility Biomarker and Brain Structural Property for Cerebral Cavernous Malformation Related Epilepsy (CRESS) cohort, a prospective multicenter study. QSM was used to quantify iron deposition in patients with sporadic cerebral cavernous malformation (CCMs).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!