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

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 gangli...

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Autores principales: Ichikawa, Yaeko, Tanaka, Masaki, Kurita, Eriko, Nakajima, Masanori, Oishi, Chizuko, Goto, Jun, Tsuji, Shoji, Chiba, Atsuro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804589/
https://www.ncbi.nlm.nih.gov/pubmed/31645982
http://dx.doi.org/10.1038/s41439-019-0073-7
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author Ichikawa, Yaeko
Tanaka, Masaki
Kurita, Eriko
Nakajima, Masanori
Tanaka, Masaki
Oishi, Chizuko
Goto, Jun
Tsuji, Shoji
Chiba, Atsuro
author_facet Ichikawa, Yaeko
Tanaka, Masaki
Kurita, Eriko
Nakajima, Masanori
Tanaka, Masaki
Oishi, Chizuko
Goto, Jun
Tsuji, Shoji
Chiba, Atsuro
author_sort Ichikawa, Yaeko
collection PubMed
description 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 (123)I-meta-iodobenzylguanidine uptake.
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spelling pubmed-68045892019-10-23 Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism Ichikawa, Yaeko Tanaka, Masaki Kurita, Eriko Nakajima, Masanori Tanaka, Masaki Oishi, Chizuko Goto, Jun Tsuji, Shoji Chiba, Atsuro Hum Genome Var Data Report 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 (123)I-meta-iodobenzylguanidine uptake. Nature Publishing Group UK 2019-09-04 /pmc/articles/PMC6804589/ /pubmed/31645982 http://dx.doi.org/10.1038/s41439-019-0073-7 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Ichikawa, Yaeko
Tanaka, Masaki
Kurita, Eriko
Nakajima, Masanori
Tanaka, Masaki
Oishi, Chizuko
Goto, Jun
Tsuji, Shoji
Chiba, Atsuro
Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism
title Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism
title_full Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism
title_fullStr Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism
title_full_unstemmed Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism
title_short Novel SLC20A2 variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism
title_sort novel slc20a2 variant in a japanese patient with idiopathic basal ganglia calcification-1 (ibgc1) associated with dopa-responsive parkinsonism
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804589/
https://www.ncbi.nlm.nih.gov/pubmed/31645982
http://dx.doi.org/10.1038/s41439-019-0073-7
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