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April 2014; 4 (2) Cases

Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN)

Yuta Ichinose, Michiaki Miwa, Akiko Onohara, Kimiko Obi, Kazumasa Shindo, Hirotomo Saitsu, Naomichi Matsumoto, Yoshihisa Takiyama
First published December 20, 2013, DOI: https://doi.org/10.1212/01.CPJ.0000437694.17888.9b
Yuta Ichinose
Department of Neurology (YI, MM, AO, KS, YT), Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan; Department of Neurology (KO), Juntendo University School of Medicine, Tokyo, Japan; and Department of Human Genetics (HS, NM), Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
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Michiaki Miwa
Department of Neurology (YI, MM, AO, KS, YT), Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan; Department of Neurology (KO), Juntendo University School of Medicine, Tokyo, Japan; and Department of Human Genetics (HS, NM), Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
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Akiko Onohara
Department of Neurology (YI, MM, AO, KS, YT), Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan; Department of Neurology (KO), Juntendo University School of Medicine, Tokyo, Japan; and Department of Human Genetics (HS, NM), Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
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Kimiko Obi
Department of Neurology (YI, MM, AO, KS, YT), Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan; Department of Neurology (KO), Juntendo University School of Medicine, Tokyo, Japan; and Department of Human Genetics (HS, NM), Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
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Kazumasa Shindo
Department of Neurology (YI, MM, AO, KS, YT), Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan; Department of Neurology (KO), Juntendo University School of Medicine, Tokyo, Japan; and Department of Human Genetics (HS, NM), Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
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Hirotomo Saitsu
Department of Neurology (YI, MM, AO, KS, YT), Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan; Department of Neurology (KO), Juntendo University School of Medicine, Tokyo, Japan; and Department of Human Genetics (HS, NM), Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
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Naomichi Matsumoto
Department of Neurology (YI, MM, AO, KS, YT), Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan; Department of Neurology (KO), Juntendo University School of Medicine, Tokyo, Japan; and Department of Human Genetics (HS, NM), Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
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Yoshihisa Takiyama
Department of Neurology (YI, MM, AO, KS, YT), Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan; Department of Neurology (KO), Juntendo University School of Medicine, Tokyo, Japan; and Department of Human Genetics (HS, NM), Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
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Citation
Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN)
Yuta Ichinose, Michiaki Miwa, Akiko Onohara, Kimiko Obi, Kazumasa Shindo, Hirotomo Saitsu, Naomichi Matsumoto, Yoshihisa Takiyama
Neurol Clin Pract Apr 2014, 4 (2) 175-177; DOI: 10.1212/01.CPJ.0000437694.17888.9b

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This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.

A 31-year-old woman presented with severe dystonia-parkinsonism. She had nonprogressive psychomotor retardation and cognitive dysfunction from childhood without evidence of dystonia or parkinsonism. At age 30, she then developed severe dystonia and gait disturbance. There was neither dystonia nor parkinsonism before age 30. MRI revealed cerebral atrophy and iron accumulation in the globus pallidus and substantia nigra (figure 1, A–D). The characteristic MRI findings were hyperintensity of the substantia nigra with a central band of hypointensity in T1-weighted axial slices (figure 1, B). Beta-propeller protein-associated neurodegeneration (BPAN) was diagnosed based on MRI findings and identification of a novel heterozygous mutation in the WDR45 gene (NM_007075.3: c.519+1_519+3del) (figure 2). This is a neurodegeneration involving brain iron accumulation (NBIA) characterized by psychomotor retardation from childhood and dystonia-parkinsonism in midadulthood.1,2 Although we could not analyze the father's gene since he had died, the mother had no mutation in the WDR45 gene (figure 2). Thus, it might be a de novo mutation in the WDR45 gene, as reported previously.1,2

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