Ontology highlight
ABSTRACT:
SUBMITTER: Ichikawa Y
PROVIDER: S-EPMC6804589 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Ichikawa Yaeko Y Tanaka Masaki M Kurita Eriko E Nakajima Masanori M Tanaka Masaki M Oishi Chizuko C Goto Jun J Tsuji Shoji S Chiba Atsuro A
Human genome variation 20190904
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 <i>SLC20A2</i> variant (p.Val322Glufs*92). The patient also presented with dopa-responsive parkinsonism with decreased dopamine transporter (DAT) density in the bilate ...[more]