Idiopathic basal ganglia calcification-1 (IBGC1) is an autosomal dominant disorder characterized by calcification in the basal ganglia, which can manifest a range of neuropsychiatric symptoms, including parkinsonism. We herein describe a 64-year-old Japanese IBGC1 patient with bilateral basal ganglia calcification carrying a novel SLC20A2 variant (p.Val322Glufs*92). The patient also presented with dopa-responsive parkinsonism with decreased dopamine transporter (DAT) density in the bilateral striatum and decreased cardiac 123I-meta-iodobenzylguanidine uptake.

中文翻译：

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日本患者特发性基底节神经钙化1（IBGC1）与多巴反应性帕金森病相关的新型SLC20A2变异。

特发性基底神经节钙化1（IBGC1）是一种常染色体显性遗传疾病，其特征在于基底神经节钙化，可表现出一系列神经精神病学症状，包括帕金森氏病。我们在这里描述了一个64岁的日本IBGC1患者，其双侧基底神经节钙化携带一种新型SLC20A2变体（p.Val322Glufs * 92）。该患者还表现出多巴反应性帕金森病，双侧纹状体的多巴胺转运蛋白（DAT）密度降低，心脏123I-间碘碘苄基胍吸收降低。