نتایج جستجو برای: neurodegeneration with brain iron accumulation

تعداد نتایج: 9480785  

2017
George P Paraskevas Christos Yapijakis Anastasia Bougea Vasilios Constantinides Mara Bourbouli Eleftherios Stamboulis Elisabeth Kapaki

Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100 mutations in PANK2 gene (20p13) are responsible for classic and atypical cases. We report here the first Greek case of atypical pantothenate-kinase-associated neurodegeneration, confirmed by molecular analysis that revealed two trans-actin...

Journal: :Brain & development 2016
Sangeetha Yoganathan Sniya Valsa Sudhakar Maya Thomas Atanu Kumar Dutta Sumita Danda

Neurodegeneration with brain iron accumulation (NBIA) refers to an inherited heterogeneous group of disorders pathologically characterized by focal brain iron deposition. Clinical phenotype, imaging findings and genotype are variable among the different types of this disorder. In this case report, we describe the imaging finding of an adolescent boy with mitochondrial membrane protein associate...

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