Case Report: clinical manifestations and imaging features associated with PANK2 c.940C>T variant in PKAN with symmetric basal ganglia calcification
BackgroundPantothenate kinase-associated neurodegeneration (PKAN) is the most common subtype of neurodegeneration with brain iron accumulation and is classically associated with pallidal iron deposition and the “eye-of-the-tiger” sign on MRI. However, atypical clinicoradiological presentations may c...
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| Autors principals: | , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2026-06-01
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| Col·lecció: | Frontiers in Genetics |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/articles/10.3389/fgene.2026.1792232/full |
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