Ontology highlight
ABSTRACT:
SUBMITTER: Dezfouli MA
PROVIDER: S-EPMC3829266 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Dezfouli Mitra Ansari MA Jaberi Elham E Alavi Afagh A Rezvani Mohammad M Shahidi Gholamali G Elahi Elahe E Rohani Mohammad M
Iranian journal of neurology 20120101 4
<h4>Background</h4>Pantothenate kinase associated neurodegeneration (PKAN) is the most prevalent type of neurodegeneration with brain iron accumulation (NBIA) disorders characterized by extrapyramidal signs, and 'eye-of-the-tiger' on T2 brain magnetic resonance imaging (MRI) characterized by hypointensity in globus pallidus and a hyperintensity in its core. All PKAN patients have homozygous or compound heterozygous mutation in PANK2 gene.<h4>Methods</h4>Three sibling patients were diagnosed base ...[more]