SCIENTIFIC LITERATURE · MED

Novel <i>SLC20A2</i> variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism.

Ichikawa Y, Tanaka M, Kurita E, Nakajima M, Tanaka M, Oishi C, Goto J, Tsuji S, Chiba A.

Hum Genome Var · 2019-09-04

DOI: 10.1038/s41439-019-0073-7PMID: 31645982

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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.

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