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| Format: | Artículo científico |
| Language: | en |
| Published: |
Associação Neurologia Cognitiva e do Comportamento
2016
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| Online Access: | https://www.redalyc.org/articulo.oa?id=339546781014 |
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Table of Contents:
- Neurodegeneration with brain iron accumulation. A case report Daniel Nassif João Santos Pereira Mariana Spitz Cláudia Capitão Alessandra Faria Medicina PKAN NBIA PANK2 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, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis. 2016 artículo científico 1980-5764 https://www.redalyc.org/articulo.oa?id=339546781014 en http://www.redalyc.org/revista.oa?id=3395 Dementia & Neuropsychologia application/pdf Associação Neurologia Cognitiva e do Comportamento Dementia & Neuropsychologia (Brasil) Num.2 Vol.10