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Neurodegeneration with Brain Iron Accumulation Disorders Overview.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2013 Feb 28 [updated 2019 Oct 21].

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1
Oregon Health & Science University, Portland, Oregon

Excerpt

The purpose of this overview is to increase the awareness of clinicians regarding neurodegeneration with brain iron accumulation (NBIA) disorders and their genetic causes and management. The following are the goals of this overview. GOAL 1: Describe the clinical characteristics of neurodegeneration with brain iron accumulation. GOAL 2: Review the genetic causes of neurodegeneration with brain iron accumulation. GOAL 3: Provide an evaluation strategy to identify the genetic cause of neurodegeneration with brain iron accumulation in a proband (when possible). GOAL 4: Inform genetic counseling of family members of an individual with neurodegeneration with brain iron accumulation. GOAL 5: Review high-level management of neurodegeneration with brain iron accumulation.

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