以肢体无力为主要表现的原发性家族性脑钙化症一例报告 - 开云网页登录

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ISSN 1671-2870 CN 31-1876/R

诊断学理论与实践››2020,Vol. 19››Issue (1): 92-94.doi:10.16150/j.1671-2870.2020.01.019

• 病例报告 •上一篇下一篇

以肢体无力为主要表现的原发性家族性脑钙化症一例报告

周敏慧¹^,², 谢心怡¹, 任汝静¹, 王刚¹()

1.开云网页登录医学院附属瑞金医院神经内科,上海 200025
2.江苏省启东市中医院脑病科,江苏启东 226200

收稿日期:2019-11-26出版日期:2020-02-25发布日期:2020-02-25
通讯作者:王刚 E-mail:wg11424@rjh.com.cn
基金资助:
开云网页登录医学院高峰高原计划——“研究型医师”(2017);上海市“医苑新星”计划杰出青年医学人才

Received:2019-11-26Online:2020-02-25Published:2020-02-25

摘要/Abstract

中图分类号:

R742

周敏慧, 谢心怡, 任汝静, 王刚. 以肢体无力为主要表现的原发性家族性脑钙化症一例报告[J]. 诊断学理论与实践, 2020, 19(1): 92-94.

图/表3

参考文献8

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[3]	Westenberger A, Balck A, Klein C. Primary familial brain calcifications: genetic and clinical update[J]. Curr Opin Neurol, 2019, 32(4):571-578. doi:10.1097/WCO.0000000000000712pmid:31157644
[4]	Nicolas G, Pottier C, Charbonnier C, et al. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification[J]. Brain, 2013, 136(Pt 11):3395-3407. doi:10.1093/brain/awt255pmid:24065723
[5]	Yao XP, Cheng X, Wang C, et al. Biallelic mutations in MYORG cause autosomal recessive primary familial brain calcification[J]. Neuron, 2018, 98(6):1116-1123. doi:10.1016/j.neuron.2018.05.037 URL
[6]	Lemos RR, Ramos EM, Legati A, et al. Update and mutational analysis of SLC20A2: A major cause of primary familial brain calcification[J]. Hum Mutat, 2015, 36(5):489-495. doi:10.1002/humu.22778 URL
[7]	Oliveira JR, Oliveira MF. Primary brain calcification in patients undergoing treatment with the biphosphanate alendronate[J]. Sci Rep, 2016, 6:22961. doi:10.1038/srep22961pmid:26976513
[8]	Hozumi I, Kohmura A, Kimura A, et al. High levels of copper, zinc, iron and magnesium, but not calcium, in the cerebrospinal fluid of patients with fahr's disease[J]. Case Rep Neurol, 2010, 2(2):46-51. doi:10.1159/000313920pmid:20671856

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