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Neurodegeneration with brain iron accumulation: A case report
Daniel Nassif1, João Santos Pereira1,2, Mariana Spitz1,2
1Movement Disorders Sector, Neurology Service, Pedro Ernesto University Hospital, State University of Rio de Janeiro, Rio de Janeiro RJ, Brazil.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic brain disorder. This case highlights atypical PKAN symptoms and confirms diagnosis through MRI and genetic testing.
Area of Science:
- Neurology
- Genetics
- Neurodegenerative Diseases
Background:
- Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder.
- It is characterized by abnormal iron accumulation in the brain, particularly the globus pallidus.
- PKAN is a subtype of neurodegeneration with brain iron accumulation (NBIA).
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