Longitudinal observation of ten family members with idiopathic basal ganglia calcification: A case report

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英文篇名：Longitudinal observation of ten family members with idiopathic basal ganglia calcification: A case report 作者：Seiju ; Kobayashi ; Kumiko ; Utsumi ; Masaru ; Tateno ; Tomo ; Iwamoto ; Tomonori ; Murayama ; Hitoshi ; Sohma ; Wataru ; Ukai ; Eri ; Hashimoto ; Chiaki ; Kawanishi 英文作者：Seiju Kobayashi;Kumiko Utsumi;Masaru Tateno;Tomo Iwamoto;Tomonori Murayama;Hitoshi Sohma;Wataru Ukai;Eri Hashimoto;Chiaki Kawanishi;Shinyukai Nakae Hospital;Department of Neuropsychiatry, Sapporo Medical University Graduate School of Medicine;Department of Psychiatry, Sunagawa City Medical Center;Tokiwa Child Development Center, Tokiwa Hospital;Department of Educational Development, Sapporo Medical University Center for Medical Education;Department of Biomedical Engineering, Sapporo Medical University, School of Medicine; 英文关键词：Idiopathic basal ganglia calcification;;Fahr's disease;;SLC20A2;;Diffuse neurofibrillary tangles with calcification;;Single-photon emission computed tomography;;Case report 中文刊名：LCBG 英文刊名：世界临床病例报告杂志(英文版) 机构：Shinyukai Nakae Hospital;Department of Neuropsychiatry, Sapporo Medical University Graduate School of Medicine;Department of Psychiatry, Sunagawa City Medical Center;Tokiwa Child Development Center, Tokiwa Hospital;Department of Educational Development, Sapporo Medical University Center for Medical Education;Department of Biomedical Engineering, Sapporo Medical University, School of Medicine; 出版日期：2019-06-26 出版单位：World Journal of Clinical Cases 年：2019 期：v.7 基金：Supported by the grant-in-Aid for Scientific Research(C)from the Japan Society for the Promotion of Science(JSPS);No.17K103112 语种：英文; 页：LCBG201912013 页数：9 CN：12 分类号：121-129

摘要

BACKGROUND Familial idiopathic basal ganglia calcification(FIBGC) is a rare autosomal dominant disorder that causes bilateral calcification of the basal ganglia and/or cerebellar dentate nucleus, among other locations.CASE SUMMARY The aim of this study is to report 10 cases of FIBGC observed in a single family.Seven patients showed calcification on their computed tomography scan, and all of these patients carried the SLC20 A2 mutation. However, individuals without the mutation did not show calcification. Three patients among the 7 with calcification were symptomatic, while the remaining 4 patients were asymptomatic. Additionally, we longitudinally observed 10 subjects for ten years.In this paper, we mainly focus on the clinical course and neuroradiological findings in the proband and her son.CONCLUSION The accumulation of more case reports and further studies related to the manifestation of FIBGC are needed.
        BACKGROUND Familial idiopathic basal ganglia calcification(FIBGC) is a rare autosomal dominant disorder that causes bilateral calcification of the basal ganglia and/or cerebellar dentate nucleus, among other locations.CASE SUMMARY The aim of this study is to report 10 cases of FIBGC observed in a single family.Seven patients showed calcification on their computed tomography scan, and all of these patients carried the SLC20 A2 mutation. However, individuals without the mutation did not show calcification. Three patients among the 7 with calcification were symptomatic, while the remaining 4 patients were asymptomatic. Additionally, we longitudinally observed 10 subjects for ten years.In this paper, we mainly focus on the clinical course and neuroradiological findings in the proband and her son.CONCLUSION The accumulation of more case reports and further studies related to the manifestation of FIBGC are needed.

引文

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