J Mov Disord.
2018 May;11(2):89-92. 10.14802/jmd.17082.
A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy
- Affiliations
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- 1Divisions of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. limshenyang@gmail.com
- 2The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, University of Malaya, Kuala Lumpur, Malaysia.
- 3Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
- 4Department of Neurology, University of Munich, Munich, Germany.
- 5Divisions of Haematology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
- 6Divisions of Neuroradiology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
- KMID: 2413381
- DOI: http://doi.org/10.14802/jmd.17082
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.
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