Neurodegenerations with Brain Iron Accumulation

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• 作者：Susanne A. Schneider ^{s.schneider@neurologie.uni-kiel.de" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Iron accumulation ; Pallidum ; Basal ganglia ; Hallervorden Spatz ; PKAN ; Dystonia
• 刊名：Parkinsonism & Related Disorders
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：22
• 期：supp_S1
• 页码：S21-S25
• 全文大小：852 K

文摘

Syndromes with Neurodegeneration with Brain Iron Accumulation (NBIA) are a group of neurodegenerative disorders characterized by excess iron mainly in the globus pallidus and sometimes adjacent areas. They clinically present as hypo- and/or hyperkinetic movement disorders and a variable degree of pyramidal, cerebellar, peripheral nerve, autonomic, cognitive and psychiatric involvement and visual dysfunction. Several causative genes underlying NBIA have been identified which explain about 65% of cases. Pathophysiologically, many of the NBIA syndromes map into related biochemical pathways and gene networks including lipid metabolism. Treatment for NBIA disorders remains symptomatic.