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Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies
Ravishankar, S.; Goel, Gaurav; Chandrajit, Prasad Bernd Rautenstrauss & Nalini, Atchayaram
Abstract
Giant axonal neuropathy (GAN) is a disorder that affects both the peripheral and central nervous system with clinical and genetic heterogeneity. We describe the spectrum of magnetic resonance imaging (MRI), MR-spectroscopy (MRS), and diffusion changess in two siblings from India. In addition to the described MRI findings two unreported findings, hyperintensity signals of both the globus pallidus on T1-weighted images and involvement of bilateral thalamus, were observed. MRS showed elevated choline peaks and reduced N-acetylaspartate peaks as well as presence of lactate peaks. Diffusion weighted images showed restricted diffusion.
Keywords
AluYa5, giant axonal neuropathy, magnetic resonance imaging, MR-spectroscopy
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