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Updated: Sep 13, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Pantothenate kinase-associated neurodegeneration: MR imaging, proton MR spectroscopy, and diffusion MR imaging
1Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
Abstract:
We herein report the case of a 15-year-old male patient with pantothenate kinase-associated neurodegeneration. The classic "eye-of-the-tiger" appearance was initially present on the globus pallidi on T2-weighted MR images and had disappeared by the time of the 10-month follow-up examination. Fluid-attenuated inversion recovery images revealed marked hypointensity in the globus pallidi and dentate nuclei and high signal intensity changes in the deep cerebral white matter. Proton MR spectroscopy revealed markedly decreased N-acetylaspartate in the globus pallidi, associated with decreased N-acetylaspartate and increased myoinositol in the deep cerebral white matter. Diffusion MR images (b=1000 s/mm(2)) were negative (normal appearing) for deep cerebral white matter lesions, whereas apparent diffusion coefficient values were slightly increased (1.08-1.12 x 10(-3) mm(2)/s), compared with the apparent diffusion coefficient values from the normal white matter regions. Apparent diffusion coefficient values in the globus pallidi were lower than those in the unaffected thalamus.
Insights
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurological disorder. This case highlights dynamic MRI findings in a young male, showing the "eye-of-the-tiger" sign evolution and characteristic spectroscopic changes.
Area of Science:
- Neuroscience
- Radiology
- Genetics
Background:
- Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inherited neurodegenerative disorder.
- It is characterized by progressive dystonia, spasticity, and cognitive decline.
- Genetic mutations in the PANK2 gene are the primary cause of PKAN.
Observation:
- A 15-year-old male presented with symptoms consistent with PKAN.
- Initial T2-weighted MRI revealed the classic "eye-of-the-tiger" sign in the globus pallidi, which resolved by 10-month follow-up.
- FLAIR MRI demonstrated hypointensity in globus pallidi and dentate nuclei, with white matter hyperintensities.
Findings:
- Proton MR spectroscopy showed reduced N-acetylaspartate (NAA) in the globus pallidi and deep white matter, with increased myoinositol in the white matter.
- Diffusion-weighted imaging (DWI) at b=1000 s/mm(2) showed normal-appearing deep white matter, but with slightly increased apparent diffusion coefficient (ADC) values.
- ADC values in the globus pallidi were lower than in the thalamus, suggesting altered tissue microstructure.
Implications:
- The dynamic changes in the "eye-of-the-tiger" sign underscore the importance of serial MRI in PKAN diagnosis and monitoring.
- Advanced MRI techniques, including spectroscopy and diffusion imaging, provide crucial insights into the pathophysiology of PKAN.
- Understanding these imaging biomarkers can aid in early diagnosis, disease progression assessment, and potentially therapeutic interventions for PKAN.
