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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Autori principali:	Feng Liang, Rui Ban, Jiajun Li, Jian Li, Shanglin Li, Jia Chen, Di Wang, Yanan Liu, Zhen Luo, Jing Li, Li Wang
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2026-06-01
Serie:	Frontiers in Genetics
Soggetti:	basal ganglia calcification dystonia homocysteine PANK2 pantothenate kinase-associated neurodegeneration
Accesso online:	https://www.frontiersin.org/articles/10.3389/fgene.2026.1792232/full
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