Proton magnetic resonance spectroscopy in Kennedy disease

The purpose of this study was to investigate the metabolic abnormalities in Kennedy disease (KD) patients using proton magnetic resonance spectroscopy. Five patients with KD showing typical phenotype were compared with eight age-matched, healthy control subjects. Relative metabolite concentrations for N-acetyl-aspartate (NAA), choline (Cho) and phosphocreatine (Cr) and lactate (Lac) were measured in the motor cortex and the brainstem area. In the motor cortex, NAA/Cr ratio was significantly reduced in KD patients (P = 0.04). In the brainstem area, metabolic ratios including NAA/Cho, NAA/Cr and Cho/Cr failed to show significant difference between KD patients and normal controls. No pathologic Lac signal was noted in patients and controls. These findings corroborate a previous study indicating an involvement of the motor cortices in patients with KD.