Neurodegeneration with Brain Iron Accumulation Disorders Overview

Excerpt

The purpose of this overview is to:

1. 1

   Briefly describe the clinical characteristics of neurodegeneration with brain iron accumulation (NBIA);

2. 2

   Review the genetic causes of NBIA;

3. 3

   Review the differential diagnosis of NBIA with a focus on genetic conditions;

4. 4

   Provide an evaluation strategy to identify the genetic cause of NBIA in a proband (when possible);

5. 5

   Review high-level management of NBIA;

6. 6

   Inform genetic counseling of family members of an individual with NBIA.