A Japanese Adult Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts with a Good Long-term Prognosis
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概要
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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently recognized neurological disease, and mutations in the MLC1 gene have been identified as the cause of the disorder. A 54-year-old Japanese woman with macrocephaly presented with progressive mental decline, gait disturbance due to spasticity and ataxia, and choreoathetotic movement in the left upper extremity. Brain magnetic resonance imaging (MRI) revealed characteristic subcortical cysts in addition to diffuse white matter involvement. Genetic analysis of the MLC1 gene identified an S93L mutation in a homozygous state. This case is particularly valuable because of the lack of knowledge on the long-term prognosis of MLC.
- 社団法人 日本内科学会の論文
著者
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Arawaka Shigeki
Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University
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Wada Manabu
Department Of Neurology Hematology Metabolism Endocrinology And Diabetes Yamagata University School
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Kawanami Toru
Department Of Neurology Hematology Metabolism Endocrinology And Diabetes Yamagata University School
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Koyama Shingo
Department Of Neurology Hematology Metabolism Endocrinology And Diabetology Yamagata University Faculty Of Medicine
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KATO Takeo
Department of Applied Physics, Osaka City University
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Kawanami Toru
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine, Japan
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Koyama Shingo
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine, Japan
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Arawaka Shigeki
Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine, Japan
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