- A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy
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Shen-Yang Lim, Ai Huey Tan, Azlina Ahmad-Annuar, Susanne A. Schneider, Ping Chong Bee, Jia Lun Lim, Norlisah Ramli, Mohamad Imran Idris
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J Mov Disord. 2018;11(2):89-92. Published online May 30, 2018
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DOI: https://doi.org/10.14802/jmd.17082
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 Abstract
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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.
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Citations
Citations to this article as recorded by  - Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases
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Developmental Medicine & Child Neurology.2021; 63(12): 1402. CrossRef - WDR45, one gene associated with multiple neurodevelopmental disorders
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Autophagy.2021; 17(12): 3908. CrossRef - Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation
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