Different patterns of [18F]dopa uptake in siblings with hereditary dentato-rubro-pallido-luysian atrophy.

Striatal glucose metabolism and [18F]dopa uptake were studied by positron emission tomography (PET) in two siblings with hereditary dentato-rubro-pallido-luysian atrophy (HDRPLA). The regional cerebral metabolic rate of glucose showed marked decreases in the cerebellum and brainstem in both cases. The elder brother, who had trunk titubation and intention tremor of extremities, showed decreased [18F]dopa uptake in the striatum. On the other hand, the younger brother, who had spontaneous myoclonus of the right shoulder and flank, showed increased [18F]dopa uptake in the striatum. These findings suggested that the wide variety of clinical symptoms of HDRPLA observed within a single family is closely related to the various neuronal dysfunctions at the neurotransmitter level.