A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy

Author: Shen Yang LIM ¹ ; Ai Huey TAN ; Azlina AHMAD-ANNUAR ; Susanne A SCHNEIDER ; Ping Chong BEE ; Jia Lun LIM ; Norlisah RAMLI ; Mohamad Imran IDRIS
Author Information

1. Divisions of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. limshenyang@gmail.com
Publication Type:Case Report
Keywords: Beta-propeller protein-associated neurodegeneration; neurodegeneration with brain iron accumulation; stereotypies; deferiprone
MeSH: Brain; Chelation Therapy; Cognition; Extremities; Gait Apraxia; Humans; Iron; Movement Disorders
From:Journal of Movement Disorders 2018;11(2):89-92
CountryRepublic of Korea
Language:English
Abstract: 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.