⌘+K

Pulse Explore Clubs Researchers Journals

Home Clubs Explore

August 26, 2025GenesOpen Access

Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients

Marika Giuliano Eugenia Borgione Mariangela Lo Giudice Francesco Domenico Di Blasi Sandro Santa Paola Girolamo Aurelio Vitello Maurizio Elia Roberto Russo Corrado Romano Carmela Scuderi

View Full Paper

Ask AI

Bookmark

Share

Key Points

Molecular analysis identified PANK2 variants in all four patients, establishing a genetic basis for PKAN.
MRI findings revealed characteristic 'eye-of-the-tiger' signs in two patients, confirming clinical diagnosis.
Whole-exome sequencing was utilized to uncover novel likely pathogenic variants in PKAN cases.
Imaging features are essential for differential diagnosis, aiding in accurate identification of PKAN.

Implication

Observational analysis showcases PANK2 variants and MRI findings in four patients, highlighting unique genetic aspects.

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Giuliano et al. (2025) studied this question.

synapsesocial.com/papers/68af63ddad7bf08b1eae3f02 https://doi.org/10.3390/genes16091008

View Full Paper

Ask AI

Bookmark

Share

Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Clinically Suspected Atypical Pantothenate Kinase-Associated Neurodegeneration Without the Eye-of-the-Tiger Sign: A Case ReportCase Report · 2026
2Case Report: clinical manifestations and imaging features associated with PANK2 c.940C>T variant in PKAN with symmetric basal ganglia calcificationCase Report · 2026 · 1 citations
3Pantothenate kinase-associated neurodegeneration (PKAN) a rare neurodegenerative disease-Two case reports2024
4Beyond the Eye of the Tiger: A Case Report of Adult-Onset Pantothenate Kinase-Associated Neurodegeneration Mimicking Progressive Supranuclear Palsy-ParkinsonismCase Report · 2026
5Genetic heterogeneity in patients with pantothenate kinase–associated neurodegeneration and classic magnetic resonance imaging eye‐of‐the‐tiger patternOriginal Research · 2005 · 24 citations