ArticleMovement disorders : official journal of the Movement Disorder Society2026
White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification.
Article in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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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