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

## TL;DR

A new SLC20A2 gene variant is linked to brain calcification and Parkinson-like symptoms, which improved with dopamine treatment.

## Contribution

A novel SLC20A2 variant is identified in PFBC, expanding its known phenotypic and genetic spectrum.

## Key findings

- A novel SLC20A2 variant was found in a patient with PFBC and dopamine-responsive parkinsonism.
- Symptomatic improvement was observed after adjusting dopaminergic treatment in the patient.
- The variant was confirmed as pathogenic through family validation and genetic analysis.

## Abstract

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 SLC20A2 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 SLC20A2-associated PFBC patients and shows the clinical efficacy of dopaminergic replacement treatment.