Skip Navigation
Skip to contents

JMD : Journal of Movement Disorders

OPEN ACCESS
SEARCH
Search

Author index

Page Path
HOME > Browse Articles > Author index
Search
Susanne A. Schneider 1 Article
A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy
Shen-Yang Lim, Ai Huey Tan, Azlina Ahmad-Annuar, Susanne A. Schneider, Ping Chong Bee, Jia Lun Lim, Norlisah Ramli, Mohamad Imran Idris
J Mov Disord. 2018;11(2):89-92.   Published online May 30, 2018
DOI: https://doi.org/10.14802/jmd.17082
  • 25,994 View
  • 161 Download
  • 11 Web of Science
  • 13 Crossref
AbstractAbstract PDFSupplementary Material
We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology was characterized primarily by limb stereotypies and gait dyspraxia. The patient’s disability was advanced by the time iron-chelating therapy with deferiprone was initiated, and no clinical response in terms of cognitive function, behavior, speech, or movements were observed after one year of treatment.

Citations

Citations to this article as recorded by  
  • Lipid droplet accumulation in Wdr45-deficient cells caused by impairment of chaperone-mediated autophagic degradation of Fasn
    Qiuhong Xiong, Huimin Sun, Yanlin Wang, Qian Xu, Yu Zhang, Mei Xu, Zhonghua Zhao, Ping Li, Changxin Wu
    Lipids in Health and Disease.2024;[Epub]     CrossRef
  • L-serine restored lysosomal failure in cells derived from patients with BPAN reducing iron accumulation with eliminating lipofuscin
    Hye Eun Lee, Minkyo Jung, Kiju Choi, Jae Hyuck Jang, Su-Kyeong Hwang, Sehyun Chae, Jae-Hyeok Lee, Ji Young Mun
    Free Radical Biology and Medicine.2024;[Epub]     CrossRef
  • Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases
    Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe
    Autophagy.2022; 18(7): 1715.     CrossRef
  • Cerebral Iron Deposition in Neurodegeneration
    Petr Dusek, Tim Hofer, Jan Alexander, Per M. Roos, Jan O. Aaseth
    Biomolecules.2022; 12(5): 714.     CrossRef
  • Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders
    Rachel M. Wise, Annika Wagener, Urban M. Fietzek, Thomas Klopstock, Eugene V. Mosharov, Fabio A. Zucca, David Sulzer, Luigi Zecca, Lena F. Burbulla
    Neurobiology of Disease.2022; 175: 105920.     CrossRef
  • WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction
    Kiwako Tsukida, Shin-ichi Muramatsu, Hitoshi Osaka, Takanori Yamagata, Kazuhiro Muramatsu
    Brain Communications.2022;[Epub]     CrossRef
  • Iron Chelation in Movement Disorders: Logical or Ironical
    Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog
    Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.2021; : 1.     CrossRef
  • Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders
    Vassilena Iankova, Ivan Karin, Thomas Klopstock, Susanne A. Schneider
    Frontiers in Neurology.2021;[Epub]     CrossRef
  • Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration
    Jenny L Wilson, Allison Gregory, Manju A Kurian, Ittai Bushlin, Fanny Mochel, Lisa Emrick, Laura Adang, Penelope Hogarth, Susan J Hayflick
    Developmental Medicine & Child Neurology.2021; 63(12): 1402.     CrossRef
  • WDR45, one gene associated with multiple neurodevelopmental disorders
    Yingying Cong, Vincent So, Marina A. J. Tijssen, Dineke S. Verbeek, Fulvio Reggiori, Mario Mauthe
    Autophagy.2021; 17(12): 3908.     CrossRef
  • Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation
    Robert V.V. Spaull, Audrey K.S. Soo, Penelope Hogarth, Susan J. Hayflick, Manju A. Kurian
    Tremor and Other Hyperkinetic Movements.2021;[Epub]     CrossRef
  • The roles of iron and HFE genotype in neurological diseases
    Yunsung Kim, James R. Connor
    Molecular Aspects of Medicine.2020; 75: 100867.     CrossRef
  • The Contribution of Iron to Protein Aggregation Disorders in the Central Nervous System
    Karina Joppe, Anna-Elisa Roser, Fabian Maass, Paul Lingor
    Frontiers in Neuroscience.2019;[Epub]     CrossRef

JMD : Journal of Movement Disorders Twitter