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

被引：13

作者：

Lim, Shen-Yang ^{[1
,4
]}

Tan, Ai Huey ^{[1
,4
]}

Ahmad-Annuar, Azlina ^{[5
]}

Schneider, Susanne A. ^{[6
]}

Bee, Ping Chong ^{[2
]}

Lim, Jia Lun ^{[4
,5
]}

Ramli, Norlisah ^{[3
]}

Idris, Mohamad Imran ^{[1
]}

机构：

[1] Univ Malaya, Fac Med, Div Neurol, Kuala Lumpur, Malaysia

[2] Univ Malaya, Fac Med, Div Haematol, Kuala Lumpur, Malaysia

[3] Univ Malaya, Fac Med, Div Neuroradiol, Kuala Lumpur, Malaysia

[4] Univ Malaya, Mah Pooi Soo & Tan Chin Nam Ctr, Parkinsons & Related Disorders, Kuala Lumpur, Malaysia

[5] Univ Malaya, Fac Med, Dept Biomed Sci, Kuala Lumpur, Malaysia

[6] Univ Munich, Dept Neurol, Munich, Germany

来源：

JOURNAL OF MOVEMENT DISORDERS | 2018年 / 11卷 / 02期

关键词：

Beta-propeller protein-associated neurodegeneration; neurodegeneration with brain iron accumulation; stereotypies; deferiprone; NBIA;

D O I：

10.14802/jmd.17082

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：89 / 92

页数：4

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