Category: Parkinsonism (Other)
Objective: describing MRI findings in PFBC
Background: PFBC is a rare genetic neurodegenerative disorder characterized by bilateral calcium deposition in basal ganglia, featuring movement disorders, psychiatric or cognitive symptoms; prognostic factors are scarse. CT scan is the gold standard technique, whereas the role of MRI is still unexplored
Method: 48 PFBC subjects and 67 matched healthy controls (HC) from the ERN-RND Center of Padua University underwent 3T brain MRI (T1, FLAIR, SWI sequences, FreeSurfer cortical thickness analysis), genetic testing (NGS Illumina NextSeq), clinical and neuropsychological evaluations
Results: 33 subjects had neurological symptoms (parkinsonism 46%, tremor 42%, brisk reflexes 44%, cerebellar symptoms or dysarthria 23%, mild cognitive impairment 36%); 29 had anxiety or depression. A genetic cause was found in 29 PFBCs.
White matter changes were best rated by FLAIR. Centra semiovalia were involved in 23 patients, with band-like supratentorial leukopathy pattern in 17 and scattered centra semiovalia lesions in 6; 15 patients had concurrent deep and periventricular alterations with intermediate sparing.
PDGFB/PDGFRB and MYORG mutations were associated with more severe white matter involvement with band-like pattern (p<0.001) and deep and periventricular alterations with intermediate sparing (p<0.01), compared to HC and other genetic or non-genetic PFBC subgroups.
Cerebellar white matter alterations were found in 13 PFBC subjects, more severe in MYORG mutation carriers (8/9, p<0.001).
White matter involvement in both cerebrum and cerebellum were significantly associated with cognitive impairment (OR 5.7, p=0.02; mean MoCA 21 vs 26, p=0.004). The presence of dentate nuclei calcifications was a significant predictor of a genetic diagnosis (OR 7.3, p=0.03) and of behavioral-psychiatric symptoms (91% vs 56%, p=0.04).
Cortical thickness reduction was observed in the left premotor cortex in PFBC (p<0.05), compared to HC, but not in asymptomatic PFBC. Cerebellar atrophy was more pronounced in MYORG subjects (p<0.05)
Conclusion: beside CT scan, brain MRI may be a useful tool in PFBC with potentially relevant prognostic correlates.
Data partially submitted as abstract at 2025 EAN Congress
To cite this abstract in AMA style:
G. Bonato, G. Librizzi, A. Adraman, M. Corazza, A. Fabris, F. Pistonesi, C. Bertolin, L. Salviati, A. Antonini, R. Manara, M. Carecchio. White matter involvement and cortical thickness in PFBC (Primary Familial Brain Calcifications) [abstract]. Mov Disord. 2025; 40 (suppl 1). https://www.mdsabstracts.org/abstract/white-matter-involvement-and-cortical-thickness-in-pfbc-primary-familial-brain-calcifications/. Accessed October 5, 2025.« Back to 2025 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/white-matter-involvement-and-cortical-thickness-in-pfbc-primary-familial-brain-calcifications/