FLUID ATTENUATION INVERSION-RECOVERY (FLAIR) IMAGES OF DENTATORUBROPALLIDOLUYSIAN ATROPHY - CASE-REPORT

The white matter lesions in a patient with late adult onset dentatorub ropallidoluysian atrophy (DRPLA) were studied in detail by MRI using t he fluid attenuation inversion recovery (FLAIR) technique. The patient was a 60 year old woman with a family history of DRPLA, in whom the n umber of CAG repeats in the DRPLA gene on chromosome 12 was expanded t o 59 (normal allele 10). in addition to atrophy of the cerebral cortex , cerebellum, and pontomesencephalic tegmentum, the cerebral white mat ter and a part of the white matter tracts within the brainstem showed prominent high signal intensities on FLAIR images. These MR findings s uggest that, in addition to the degeneration of the dentatorubral and pallidoluysian systems, the pathological process extends to the white matter in DRPLA. This could be important for differentiating DRPLA fro m other clinically similar diseases such as Machado-joseph disease or Huntington's disease.