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Quantitative iron measurements in the basal ganglia of NBIA patients using QSM: insights from a tertiary center

Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify i...

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Hauptverfasser: Uygun, Özge (VerfasserIn) , Özcan, Alpay (VerfasserIn) , Aras, Fuat Kaan (VerfasserIn) , Bozdemir, Evrim (VerfasserIn) , Uğur İşeri, Sibel (VerfasserIn) , Kırımtay, Koray (VerfasserIn) , Karabay, Arzu (VerfasserIn) , Gültekin, Murat (VerfasserIn) , Akçakaya, Nihan Hande (VerfasserIn) , Mammadov, Orkhan (VerfasserIn) , Kır, Gülay (VerfasserIn) , İnce Günal, Dilek (VerfasserIn) , Tuncer, Neşe (VerfasserIn) , Özdilek, Fatma Betül (VerfasserIn) , Özen Barut, Banu (VerfasserIn) , Köse, Ercan (VerfasserIn) , Apaydın, Hülya (VerfasserIn) , Ali, Asuman (VerfasserIn) , Çağırıcı, Sultan (VerfasserIn) , Topaloğlu, Pınar (VerfasserIn) , Dinçer, Alp (VerfasserIn) , Yapıcı, Zuhal (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: November 2025
In: Annals of Clinical and Translational Neurology
Year: 2025, Jahrgang: 12, Heft: 11, Pages: 2305-2316
ISSN:2328-9503
DOI:10.1002/acn3.70161
Online-Zugang:Verlag, kostenfrei, Volltext: https://doi.org/10.1002/acn3.70161
Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/acn3.70161
Volltext
Verfasserangaben:Özge Uygun, Alpay Özcan, Fuat Kaan Aras, Evrim Bozdemir, Sibel Uğur İşeri, Koray Kırımtay, Arzu Karabay, Murat Gültekin, Nihan Hande Akçakaya, Orkhan Mammadov, Gülay Kır, Dilek İnce Günal, Neşe Tuncer, Fatma Betül Özdilek, Banu Özen Barut, Ercan Köse, Hülya Apaydın, Asuman Ali, Sultan Çağırıcı, Pınar Topaloğlu, Alp Dinçer, Zuhal Yapıcı
Beschreibung
Zusammenfassung:Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility mapping (QSM) allows precise in vivo quantification of iron, providing insight into the pathophysiology of the disease. Methods We studied 27 genetically confirmed NBIA patients and 11 age-matched healthy controls using susceptibility-weighted imaging (SWI) on a 3 Tesla MRI scanner. Basal ganglia regions of interest (ROIs) were manually delineated and QSM values were extracted. Results Sixteen NBIA patients and 11 controls were analyzed. QSM showed significantly higher iron in the globus pallidus (GP) (p = 0.008), with PKAN patients showing a 2.5-fold increase in GP iron (p = 0.001). MPAN patients showed 2.5 times higher iron in both GP and substantia nigra (SN). A GP iron level > 0.1133 ppm increased the likelihood of PKAN 18-fold. Atypical PKAN cases had 2.5 times higher SN iron levels compared to classic cases. Interpretation QSM is a sensitive and noninvasive tool for detecting and quantifying iron accumulation in NBIA. The GP consistently showed the highest susceptibility values across subtypes, emphasizing its significant role in disease pathology. Distinct patterns of iron deposition in different NBIA subtypes may reflect subtype-specific mechanisms with diagnostic and therapeutic relevance. Age-related susceptibility changes were found to be significant, reinforcing the need to account for age when interpreting QSM data. More importantly, QSM may serve as a candidate biomarker for longitudinal disease monitoring in future clinical trials targeting disease-modifying therapies in NBIA.
Beschreibung:Zuerst veröffentlicht: 16. August 2025
Gesehen am 21.01.2026
Beschreibung:Online Resource
ISSN:2328-9503
DOI:10.1002/acn3.70161

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