Beyaz Maddeler: Birincil Beyin Kalkifikasyonunda Klinik Korrelatlarla Manyetik Rezonans Görüntüleme Çalışması.

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BackgroundPrimary brain calcification (PBC) is a genetic disease featuring movement disorders, cognitive impairment, and/or psychiatric symptoms. Computed tomography (CT) scan identifies brain calcification but poorly correlates with patients' clinical phenotype; the role of magnetic resonance imaging (MRI) is yet undefined.ObjectiveDescribing white matter (WM) changes and clinical correlates in PBC.MethodsFifty PBC patients and 50 age-matched controls underwent 3 T brain MRI. Patients also underwent brain CT scan, genetic analysis, and clinical and neuropsychological evaluation. Two patterns of supratentorial WM changes were observed: a leukodystrophic band-like and a scattered vascular-like one that were characterized based on anatomical location and severity. Cerebellar WM alterations were also described. Comparison tests and multivariate analysis were applied.ResultsWM abnormalities were found in 41/50 patients and 32/50 controls. Supratentorial band-like leukopathy was observed in 21/25 patients with centrum semiovale calcifications, involved the deep/periventricular regions with intermediate sparing (19/21), was frequently severe (15/21), diffuse (10/21) or with anterior prevalence (10/21), and mostly associated with MYORG (8/9) and PDGFB/PDGFRB (5/8) mutations. The prevalence and severity of vascular-like scattered abnormalities did not differ between patients and controls. Cerebellar leukopathy was present in 16/50 patients, being severe in 11/16, frequently observed in MYORG patients (9/10), and associated with band-like supratentorial leukopathy (16/16) and cerebellar hemispheric calcifications. WM involvement correlated with cognitive impairment, parkinsonism, psychiatric disturbances (band-like pattern, P = 0.02), and cerebellar symptoms (cerebellar leukopathy, P = 0.002).ConclusionsWM alterations are frequent in PBC and may be an expression of leukodystrophy-like tissue changes, being a potential imaging biomarker of cognitive impairment, parkinsonism severity, and cerebellar dysfunction. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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