In vivo proton magnetic resonance spectroscopy in patients with neuroacanthocytosis

We report the 'H-Magnetic Resonance Spectroscopy findings in two siblings with neuroacanthocytosis (NAC), along with six matched controls. Proton spectra recorded from single voxels containing putamen and globus pallidus showed a significantly higher intensity of myoinositol and choline peaks in patients when compared with controls. The myoinositol/creatine, myoinositol/N-acetyl-aspartate, and choline/creatine ratios were significantly higher in the patients than in the controls. Although the increased myoinositol signal could be a non-specific finding, it could not be excluded that it had a possible role in the pathogenesis of NAC.