A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion

摘要

Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is a neuropsychiatric disorder characterized by symmetric calcification in the basal ganglia and other brain regions without other secondary causes of brain calcification. Clinical features include a variable combination of movement disorders and neuropsychiatric symptoms including parkinsonism, cognitive impairment, ataxia, seizures, chronic headache, and schizophrenia-like psychosis [1]. Recently, SLC20A2 mutations have been identified in several IBGC families with autosomal dominant inheritance [2]. We here report the case of a Japanese family with a novel SLC20A2 mutation, in which the proband presented with hallucination and delusion in late life.