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.

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.

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