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Article

Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.

Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2006

Valentino Paola, Annesi Grazia, Cirò Candiano Innocenza C, Annesi Ferdinanda, Civitelli Donatella, Tarantino Patrizia, Naso Francesco, Spadafora Patrizia, Carrideo Sara, De Marco Elvira V, Consoli Domenico, Zappia Mario, Gambardella Antonio, Quattrone Aldo

Abstract excerpt

We performed a detailed molecular study in two unrelated families with pantothenate kinase-associated neurodegeneration (PKAN) and the specific magnetic resonance imaging (MRI) eye-of-the-tiger pattern. In the first family with classic PKAN, linkage analysis using polymorphic markers from the PANK2 region ruled out linkage with this locus, and no mutation of the PANK2 gene was found. In the second family with...

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Source

Identifiers

PMID: 16149094
DOI: 10.1002/mds.20681

Genes

PANK2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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