eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | neurodegeneration with brain iron accumulation 1 |
| Comorbidity | C0018523|pantothenate kinase-associated neurodegeneration |
| Sentences | 9 |
| PubMedID- 25802776 | The most common subtype of nbia, pantothenate kinase-associated neurodegeneration (pkan), is caused by mutations in the pank2 gene [1, 2]. |
| PubMedID- 24600523 | pantothenate kinase-associated neurodegeneration (pkan) is a rare autosomal recessive inborn error of coenzyme a metabolism, caused by mutations in pank2. |
| PubMedID- 20207700 | The most common subtype, pantothenate kinase-associated neurodegeneration, is caused by mutations in the pank2 gene (zhou et al., 2001) and accounts for ∼50% of cases of nbia (hayflick et al., 2003). |
| PubMedID- 25628772 | pantothenate kinase-associated neurodegeneration is a rare pathology connected with neuroferritinopathy, aceruloplasminemia and infantile neuroaxonal dystrophy deposition, that mostly appears in globus pallidus in the shape of a central area of high signal and surrounding rim of low signal called “eye of the tiger” sign [20,21]. |
| PubMedID- 22983956 | pantothenate kinase-associated neurodegeneration (pkan) is the main disorder of a nosological family termed neurodegeneration with brain iron accumulation (nbia), in which accumulated iron can be visualized by radiological and histopathological examination of the brain. |
| PubMedID- 24586779 | Drosophila was successfully employed to study pantothenate kinase-associated neurodegeneration (pkan) resulting from mutations in pank2[10], [11] and tested in rescue experiments with pantethine [12]. |
| PubMedID- 24847269 | pantothenate kinase-associated neurodegeneration (pkan or nbia type i) is the most frequent syndrome among nbia disorders and it was the first one to be associated to mutations in a specific gene, namely pantothenate kinase 2 (pank2; zhou et al., 2001). |
| PubMedID- 23275784 | Perhaps the best-known disorder among these is pantothenate kinase-associated neurodegeneration (pkan/nbia1), formerly known as hallervorden-spatz disease in typical young-onset cases and hallervorden-spatz syndrome in atypical late-onset cases. |
| PubMedID- 24316510 | Only pank2−/− mice fed with a ketogenic diet developed a pantothenate kinase-associated neurodegeneration-like syndrome characterized by severe motor dysfunction, neurodegeneration and severely altered mitochondria in the central and peripheral nervous systems. |
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