title: Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN).
abstract: 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 theWDR45gene (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.1,2Although we could not analyze the father's gene since he had died, the mother had no mutation in theWDR45gene (figure 2). Thus, it might be a de novo mutation in theWDR45gene, as reported previously.1,2.
authors.affiliation: 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.
authors.forename: Yuta
authors.initials: Y
authors.lastname: Ichinose
authors.affiliation: 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.
authors.forename: Michiaki
authors.initials: M
authors.lastname: Miwa
authors.affiliation: 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.
authors.forename: Akiko
authors.initials: A
authors.lastname: Onohara
authors.affiliation: 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.
authors.forename: Kimiko
authors.initials: K
authors.lastname: Obi
authors.affiliation: 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.
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Shindo
authors.affiliation: 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.
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.affiliation: 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.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: 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.
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Takiyama