Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the NEU1 Gene
スポンサーリンク
概要
- 論文の詳細を見る
The case of a Japanese sialidosis type I patient with a novel NEU1 gene mutation is described. The patient developed an unsteady gait at age 14 and was referred to our hospital at age 16. On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb and gait ataxia, hyperreflexia and macular cherry-red spots were observed. An enzymological analysis revealed a primary deficiency of neuraminidase. An NEU1 gene analysis identified two heterozygous missense mutations: p.P80L and p.D135N. The p.D135N mutation is a novel mutation that is considered to be associated with the mild clinical phenotype of sialidosis. Serial brain MRI showed diffuse brain atrophy progressing rapidly over the 41-month observation period.
著者
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Nanba Eiji
Division Of Functional Genomics Research Center For Bioscience And Technology Tottori University
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Adachi Kaori
Division Of Pediatric Neurology Yokohama Ryouikuen
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Ikeda Shu-ichi
Department Of Internal Medicine (neurology And Rheumatology) Shinshu University School Of Medicine
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Kishida Dai
Department Of Internal Medicine Center For Rheumatic Diseases Dohgo Spa Hospital
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Sekijima Yoshiki
Department Of Medicine (neurology And Rheumatology) Shinshu University School Of Medicine
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Nakamura Katsuya
Department of Medicine (Neurolgy and Rheumatology), Shinshu University School of Medicine
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Sekijima Yoshiki
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
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Narita Aya
Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Japan
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Ohno Kosaku
Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Japan
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Nanba Eiji
Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan
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Adachi Kaori
Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan
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Nakamura Katsuya
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
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