Neurodegeneration with Brain Iron Accumulation: Diagnosis and Managementl

被引：158

作者：

Hogarth, Penelope ^{[1
]}

机构：

[1] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, 3181 SW Sam Jackson Pk Rd,Mail Code L-103, Portland, OR 97123 USA

来源：

JOURNAL OF MOVEMENT DISORDERS | 2015年 / 8卷 / 01期

基金：

欧盟第七框架计划; 美国国家卫生研究院;

关键词：

Neurodegenerative diseases; Iron; Neuroaxonal dystrophies; Pantothenate kinase associated neurodegeneration; Iron metabolism disorders; Brain diseases; metabolic; inborn;

D O I：

10.14802/jmd.14034

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron deposition in the basal ganglia. The genetic basis of ten forms of NBIA is now known. The clinical features of NBIA range from rapid global neurodevelopmental regression in infancy to mild parkinsonism with minimal cognitive impairment in adulthood, with wide variation seen between and within the specific NBIA sub-type. This review describes the clinical presentations, imaging findings, pathologic features, and treatment considerations for this heterogeneous group of disorders.

引用

页码：1 / 13

页数：13

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