期刊
CURRENT OPINION IN NEUROLOGY
卷 25, 期 4, 页码 499-506出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/WCO.0b013e3283550cac
关键词
chelating agents; dystonia; iron; NBIA; neurodegeneration
资金
- Czech Ministry of Health [IGA MZ CR NT12282-5/2011]
- Czech Ministry of Education [MSM 0021620849]
Purpose of review Recent years have witnessed the discoveries of several genes causing neurodegeneration with brain iron accumulation (NBIA) and subsequently their novel classification scheme was suggested. The first results of treatments with modern chelating drugs are also being published. Recent findings Most recently, mutations in the c19orf12 gene encoding a mitochondrial protein of unknown function were identified in patients suffering from hitherto unknown NBIA presenting with a clinical phenotype similar to pantothenate kinase-associated neurodegeneration (PKAN) but with a slightly later onset. A case study has shown that mutations in the fatty-acid 2-hydroxylase gene may lead to various phenotypes combining the features of leukodystrophy and NBIA, supporting that abnormal metabolism of myelin and iron accumulation may have a common cause. A phase-II pilot study did not find any clinical improvement after chelating treatment in a group of PKAN patients. However, benefits of chelating treatment have been observed in individual patients with PKAN and idiopathic NBIA in another study. Summary This review gives an outline of the clinical presentations of recently discovered NBIA syndromes and summarizes the clues to their differential diagnosis. While chelating treatment still remains experimental, advances have been made regarding the indications of deep brain stimulation in symptomatic treatment of NBIAs manifesting with generalized dystonia.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据