Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism
Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism
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DOI：
10.1038/s41439-019-0073-7
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发表时间：
2019-09-04
影响因子：
1.5
通讯作者：
Chiba, Atsuro
中科院分区：
文献类型：
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作者：
Ichikawa, Yaeko;Tanaka, Masaki;Chiba, Atsuro
特发性基底神经节钙化-1（IBGC 1）是一种常染色体显性遗传疾病，其特征是基底神经节钙化，可表现出一系列神经精神症状，包括帕金森综合征。我们在此描述了一例64岁的日本IBGC 1患者，双侧基底节钙化，携带新型SLC 20 A2变体（p.Val322Glufs*92）。患者还出现多巴反应性帕金森综合征，双侧纹状体多巴胺转运蛋白（DAT）密度降低，心脏I-123-间碘苄胍摄取减少。
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 I-123-meta-iodobenzylguanidine uptake.