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

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MDS Abstracts - https://www.mdsabstracts.org/abstract/white-matter-involvement-and-cortical-thickness-in-pfbc-primary-familial-brain-calcifications/