Ontology highlight
ABSTRACT:
SUBMITTER: Lim SY
PROVIDER: S-EPMC5990906 | biostudies-other | 2018 May
REPOSITORIES: biostudies-other
Journal of movement disorders 20180530 2
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 ...[more]