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JMD : Journal of Movement Disorders


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Azlina Ahmad-Annuar 3 Articles
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
  • 5,047 View
  • 57 Download
  • 1 Web of Science
  • 1 Crossref
PDFSupplementary Material


Citations to this article as recorded by  
  • 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
Purposeless Groaning in Parkinson’s Disease
Shen-Yang Lim, Ai Huey Tan, Jia Lun Lim, Azlina Ahmad-Annuar
J Mov Disord. 2018;11(2):87-88.   Published online May 30, 2018
  • 8,231 View
  • 110 Download
  • 6 Web of Science
  • 5 Crossref
AbstractAbstract PDFSupplementary Material
less groaning has been reported in advanced progressive supranuclear palsy. We present a case of purposeless groaning occurring as a primary complaint in a patient with advanced Parkinson’s disease. Purposeless groaning is thought to be a manifestation of disinhibition and perseveration due to frontal-subcortical dysfunction. Proper recognition of this phenomenon will help clinicians to avoid unnecessary investigations and treatment (e.g., prescription of opioid medications).


Citations to this article as recorded by  
  • OFF-Period Purposeless Groaning in Parkinsonism
    Vikash Agarwal, Jeyalakshmi Rajan, Norlisah Ramli, Cecilia Santiago, DushyanthB Jasti, AiHuey Tan, Shen-Yang Lim
    Neurology India.2022; 70(3): 1232.     CrossRef
  • Involuntary moaning in a Hispanic family with eight affected members
    Maria Gisatulin, Malco Rossi, Claudia Perandones, Christine Klein, Katja Lohmann, Marcelo Merello
    Parkinsonism & Related Disorders.2021; 89: 206.     CrossRef
  • Involuntary Groaning Induced by Levodopa Therapy in a Patient With Progressive Supranuclear Palsy
    Jung E. Park
    JAMA Neurology.2020; 77(12): 1569.     CrossRef
  • Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters
    Shen-Yang Lim, Jia Lun Lim, Azlina Ahmad-Annuar, Katja Lohmann, Ai Huey Tan, Kai Bin Lim, Yi Wen Tay, Yee Lee Shing, Kalai Arasu Muthusamy, Peter Bauer, Arndt Rolfs, Christine  Klein
    Neurodegenerative Diseases.2020; 20(1): 39.     CrossRef
  • The spectrum of involuntary vocalizations in humans: A video atlas
    Tina Mainka, Bettina Balint, Felix Gövert, Lille Kurvits, Christoph van Riesen, Andrea A. Kühn, Marina A.J. Tijssen, Andrew J. Lees, Kirsten Müller‐Vahl, Kailash P. Bhatia, Christos Ganos
    Movement Disorders.2019; 34(12): 1774.     CrossRef
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
  • 26,258 View
  • 162 Download
  • 12 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 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; 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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