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Year : 2009  |  Volume : 57  |  Issue : 2  |  Page : 181--184

Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies

1 Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India
2 University Hospital Erlangen, Institute of Human Genetics, Erlangen, Institute of Human Genetics, Medical Genetics Center Munich, Germany
3 Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India

Correspondence Address:
Atchayaram Nalini
Department of Neurology, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore - 560 029
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.51290

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Giant axonal neuropathy 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.


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Online since 20th March '04
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