Diagnosis of Joseph disease by means of N-isopropyl-p-[123I]iodoamphetamine (IMP) SPECT

Using N-isopropyl-p-[123I]iodoamphetamine (IMP) and single-photon-emission computed tomography (SPECT), we studied the regional cerebral blood flow (rCBF) in 4 Japanese patients who had been clinically diagnosed as having Joseph disease. This is the first report of rCBF measurement by means of [123I]-IMP SPECT in patients with Joseph disease. Cerebellar atrophy was evaluated by means of a 5-rating scale as defined by X-ray computed tomography (X-CT). As compared with 10 normal controls (mean cerebellar CBF±SD: 66.9±6.6 ml/100 g/min), the regional CBF of the patients with Joseph disease was found to decrease significantly in the cerebellum (mean±SD: 52.8±5.3 ml/100 g/min). However, no significant relationship was found between the decrease in rCBF in the cerebellum and the degree of cerebellar atrophy as shown by X-CT. The regional CBF in the cerebellum decreased little in one patient who had severe cerebellar atrophy or in two who showed moderate atrophy. [123I]-IMP SPECT demonstrates the pathological and metabolic changes in the cerebellum that do not appear on X-CT or MRI. IMP SPECT is thus shown to be useful for the diagnosis of patients with Joseph disease. (author)