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

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Molecular study reveals genetic diversity in neurodegeneration cases, suggesting complex genetics in affected families.

This study aims to investigate genetic variations in patients with pantothenate kinase-associated neurodegeneration and associated MRI patterns.
Detailed molecular analysis in two unrelated families.
Linkage analysis utilizing polymorphic markers in the PANK2 region.
Identification of genetic mutations in the PANK2 gene.
First family with classic PKAN showed no mutation in the PANK2 gene.
Second family exhibited a novel homozygous C-to-T transition in the PANK2 gene at nucleotide 1069, causing an arginine-to-tryptophan substitution.
Observation highlights the genetic heterogeneity associated with PKAN despite the presence of classic MRI patterns.

Valentino et al. (2005) studied this question.

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