Journal of Movement Disorders

Letters to the editor

Hyperglycemia-Associated Hemichorea-Hemiballismus with Predominant Ipsilateral Putaminal Abnormality on Neuroimaging: Si Lei Fong, Ai Huey Tan, Kar Foo Lau, Norlisah Ramli, Shen-Yang Lim; J Mov Disord. 2019;12(3):187-189. Published online August 9, 2019; DOI: https://doi.org/10.14802/jmd.19014

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Effect of Infection on the Incidence of Hyperglycemic Hemichorea: A Case-Series
Rui Wang, Meng Li, Yao Wang, Chao Zhi Tang, Yuan Chen Wang
Diabetes, Metabolic Syndrome and Obesity.2024; Volume 17: 3455. CrossRef
Relationship Between Diabetic Chorea and Timing of MRI Findings: A Systematic Review with Case Reports
Yumi Otaka, Yukinori Harada, Norio Sugawara, Taro Shimizu, Norio Yasui-Furukori
International Journal of General Medicine.2023; Volume 16: 4465. CrossRef
The Possible Precipitating Role of SARS-CoV-2 in a Case of Late-Onset Hemichorea Due to a Hyperosmolar Hyperglycemic State: Case Report and Brief Literature Review
Roberto Sperotto, Laura Ceccarelli, Yan Tereshko, Giovanni Merlino, Gian Luigi Gigli, Mariarosaria Valente
Medicina.2023; 59(11): 1949. CrossRef
Consideration for Hemiballismus in the Differential Diagnosis: A Rare Case of Hyperosmolar Hyperglycemic State
Iman Isayli, Nicolas Ulloa, John Childress
Cureus.2022;[Epub] CrossRef
A Case of Diabetic Hemichorea Hemiballismus Exacerbated by Hypoglycemia
Jessica Rupp, Avrum Gillespie
AACE Clinical Case Reports.2021;[Epub] CrossRef
Hemicorea inducida por hiperglucemia no cetósica: discordancia clínicorradiológica
Juan Pablo García Marmolejo, Manuel David Mayoral Valencia, Paola Andrea Tejada Serna
Universitas Médica.2021;[Epub] CrossRef

Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities: Ai Huey Tan, Tien Lee Ong, Norlisah Ramli, Li Kuo Tan, Jia Lun Lim, Mohamad Addin Azhan, Azlina Ahmad-Annuar, Khairul Azmi Ibrahim, Zariah Abdul-Aziz, Laurie J. Ozelius, Allison Brashear, Shen-Yang Lim; J Mov Disord. 2019;12(2):132-134. Published online May 30, 2019; DOI: https://doi.org/10.14802/jmd.18063

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White matter and cerebellar involvement in alternating hemiplegia of childhood
Mariasavina Severino, Livia Pisciotta, Domenico Tortora, Benedetta Toselli, Michela Stagnaro, Ramona Cordani, Giovanni Morana, Anna Zicca, Svetlana Kotzeva, Clelia Zanaboni, Giovanni Montobbio, Andrea Rossi, Elisa De Grandis
Journal of Neurology.2020; 267(5): 1300. CrossRef

Case Report

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

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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

Metabolic impairments in neurodegeneration with brain iron accumulation
Agata Wydrych, Barbara Pakuła, Justyna Janikiewicz, Aneta M. Dobosz, Patrycja Jakubek-Olszewska, Marta Skowrońska, Iwona Kurkowska-Jastrzębska, Maciej Cwyl, Mariola Popielarz, Paolo Pinton, Barbara Zavan, Agnieszka Dobrzyń, Magdalena Lebiedzińska-Arciszew
Biochimica et Biophysica Acta (BBA) - Bioenergetics.2025; 1866(1): 149517. CrossRef
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; 221: 273. 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

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