Akademik Veri Yönetim Sistemi
Annals of clinical and translational neurology, cilt.12, sa.11, ss.2305-2316, 2025 (SCI-Expanded, Scopus)
ABSTRACT 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 >0.1133ppm 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