Purpose: To quantify impairment of the basal ganglia (globus pallidus and thalamus) in adult-onset dentatorubral-pallidoluysian atrophy (DRPLA).
Methods: Five patients with genetically definite adult-onset DRPLA (aged 51 to 65 years, mean 55.6 years) and 5 age- and sex-matched healthy controls underwent conventional magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (MRS) of the brain in the voxels predominantly containing the globus pallidus or the thalamus.
Results: Conventional MRI studies showed apparently normal intensities in the globus pallidus and thalamus. MRS showed that the choline (Cho)/creatine (Cr) ratio for the patients' globus pallidus, the region preferentially affected in DRPLA, was significantly higher than that in the controls (p<0.05). The N-acetylaspartate (NAA)/Cr ratio for the globus pallidus and the Cho/Cr and NAA/Cr ratios for the thalamus, the region relatively spared in this disease, did not differ significantly between the patients and controls.
Conclusions: MRS may sensitively and specifically detect biochemical alterations in susceptible regions of patients with adult-onset DRPLA.