Abstract
Primary familial brain calcification (PFBC), traditionally described as Fahr's disease or idiopathic basal ganglia calcification, is characterized by symmetric calcification in the basal ganglia and other brain regions. Although PFBC is usually asymptomatic, some patients develop symptoms including neurocognitive disorder and parkinsonism [1]. Paroxysmal kinesigenic dyskinesia (PKD) has rarely been reported in patients with PFBC. We herein describe familial cases of PFBC presenting with PKD. Through comprehensive mutational analysis employing whole-exome sequence analysis, we revealed multiple variants that may be potentially relevant to the clinical presentation of the patients in this family and discuss implication of comprehensive mutational analysis in establishing the molecular diagnosis.
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