Affiliations 

  • 1 Divisions of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 2 Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 3 Department of Neurology, University of Munich, Munich, Germany
  • 4 Divisions of Haematology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 5 The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, University of Malaya, Kuala Lumpur, Malaysia
  • 6 Divisions of Neuroradiology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
J Mov Disord, 2018 May;11(2):89-92.
PMID: 29860786 DOI: 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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.