Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration.
| Title | Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration. |
| Publication Type | Journal Article |
| Year of Publication | 2017 |
| Authors | Paraskevas, G. P., Yapijakis C., Bougea A., Constantinides V., Bourbouli M., Stamboulis E., & Kapaki E. |
| Journal | SAGE Open Med Case Rep |
| Volume | 5 |
| Pagination | 2050313X17720101 |
| Date Published | 2017 |
| ISSN | 2050-313X |
| Abstract | Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100 mutations in 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-acting mutations. Our findings highlight the possible role of rare variants contributing to disease risk and possibly to variable clinical phenotype. |
| DOI | 10.1177/2050313X17720101 |
| Alternate Journal | SAGE Open Med Case Rep |
| PubMed ID | 28781879 |
| PubMed Central ID | PMC5521331 |
