KMID : 1197720180110020089
|
|
´ëÇÑÆÄŲ½¼º´ ¹× ÀÌ»ó¿îµ¿Áúȯ ÇÐȸÁö 2018 Volume.11 No. 2 p.89 ~ p.92
|
|
A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy
|
|
Lim Shen-Yang
Tan Ai Huey Ahmad-Annuar Azlina Schneider Susanne A. Bee Ping Chong Lim Jia Lun Ramli Norlisah Idris Mohamad Imran
|
|
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.
|
|
KEYWORD
|
|
Beta-propeller protein-associated neurodegeneration, neurodegeneration with brain iron accumulation, stereotypies, deferiprone
|
|
FullTexts / Linksout information
|
|
|
|
Listed journal information
|
|
|