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

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 wa...

Descripción completa

Detalles Bibliográficos
Autores principales: Lim, Shen-Yang, Tan, Ai Huey, Ahmad-Annuar, Azlina, Schneider, Susanne A., Bee, Ping Chong, Lim, Jia Lun, Ramli, Norlisah, Idris, Mohamad Imran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990906/
https://www.ncbi.nlm.nih.gov/pubmed/29860786
http://dx.doi.org/10.14802/jmd.17082

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990906/
https://www.ncbi.nlm.nih.gov/pubmed/29860786
http://dx.doi.org/10.14802/jmd.17082

Ejemplares similares