一名日本特发性基底节钙化症1型（IBGC1）伴多巴反应性帕金森综合征患者的新型变异体。
Novel variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism.
作者信息
Ichikawa Yaeko, Tanaka Masaki, Kurita Eriko, Nakajima Masanori, Tanaka Masaki, Oishi Chizuko, Goto Jun, Tsuji Shoji, Chiba Atsuro
机构信息
1Department of Neurology, Kyorin University School of Medicine, Tokyo, Japan.
2Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.
出版信息
Hum Genome Var. 2019 Sep 4;6:44. doi: 10.1038/s41439-019-0073-7. eCollection 2019.
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 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-meta-iodobenzylguanidine uptake.
特发性基底节钙化-1（IBGC1）是一种常染色体显性疾病，其特征为基底节钙化，可表现出一系列神经精神症状，包括帕金森综合征。我们在此描述一名64岁的日本IBGC1患者，其双侧基底节钙化，携带一种新的变异（p.Val322Glufs*92）。该患者还表现为多巴反应性帕金森综合征，双侧纹状体中多巴胺转运体（DAT）密度降低，心脏间碘苄胍摄取减少。
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