Abstract:Neurodegeneration with brain iron accumulation (NBIA) is an umbrella term used to clinically describe a group of neurologic conditions associated with high brain iron. To date, there are 10 genetic subtypes described, which share several common clinical features. Novel technologies such as improved magnetic resonance imaging techniques and whole exome sequencing have provided new clinical and genetic insight into these disorders, thereby improving clinical diagnosis for patients. Indeed, precise diagnosis is n… Show more
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