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J Mov Disord. 2015 Jan;8(1):1-13. doi: 10.14802/jmd.14034. Epub 2015 Jan 13.

Neurodegeneration with brain iron accumulation: diagnosis and management.

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1
Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.

Abstract

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.

KEYWORDS:

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

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