AUTHOR=Sun Dandan , Wang Yu , Wang Jiawei , Wang Shijing , Zhu Ling , Xia Kun , Zhang Yunyun , Wang Xun 

TITLE=Primary familial brain calcification presenting with parkinsonism and motor complications caused by a novel SLC20A2 variant: a case report

JOURNAL=Frontiers in Neurology

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1382534

DOI=10.3389/fneur.2024.1382534

ISSN=1664-2295

ABSTRACT=<p>Primary familial brain calcification (PFBC), also known as Fahr’s disease, is a central nervous system calcium deposition disorder with symmetrical basal ganglia calcification. Most PFBC cases are caused by <italic>SLC20A2</italic> gene variant. We report a Chinese female patient with PFBC and dopamine-responsive parkinsonism who had motor fluctuations and dyskinesia and recovered effectively after symptomatic medication adjustment. A novel heterozygous missense variant was found by whole-exome sequencing and proven harmful by family validation and genetic analysis. This example expands the phenotype of <italic>SLC20A2</italic>-associated PFBC patients and shows the clinical efficacy of dopaminergic replacement treatment.</p>