Reversible MRI brain changes in hypermanganesaemia with dystonia 1 with EDTA therapy.
作者信息
Chawla Tanushree, Sehgal Jyoti, Goyal Vinay
机构信息
Department of Neurology, Institute of Neurosciences, Medanta The Medicity, Gurugram, Haryana, India.
Department of Neurology, Institute of Neurosciences, Medanta The Medicity, Gurugram, Haryana, India
出版信息
BMJ Case Rep. 2022 Jun 10;15(6):e250771. doi: 10.1136/bcr-2022-250771.
Abstract
摘要
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Reversible MRI brain changes in hypermanganesaemia with dystonia 1 with EDTA therapy.依地酸二钠治疗伴有肌张力障碍1型的高锰血症时脑MRI的可逆性改变
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本文引用的文献
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Inherited manganism: the "cock-walk" gait and typical neuroimaging features.遗传性锰中毒：“鸡步”步态及典型神经影像学特征。
J Neurol Sci. 2014 Jun 15;341(1-2):150-2. doi: 10.1016/j.jns.2014.03.057. Epub 2014 Apr 4.
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Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.SLC30A10 基因突变导致帕金森病和肌张力障碍伴高锰血症、红细胞增多症和慢性肝病。
Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j.ajhg.2012.01.017. Epub 2012 Feb 16.
3
Validity and reliability of a rating scale for the primary torsion dystonias.原发性扭转性肌张力障碍评定量表的效度和信度
Neurology. 1985 Jan;35(1):73-7. doi: 10.1212/wnl.35.1.73.
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