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Neurodegeneration with brain iron accumulation: A case report

Nassif,Daniel; Pereira,João Santos; Spitz,Mariana; Capitão,Cláudia; Faria,Alessandra

ABSTRACT Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibi...

Date: 2016   |   Origin: Oasisbr
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