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Cerebral hypoperfusion and hypometabolism with altered striatal signal intensity in chorea‐acanthocytosis: A combined PET and MRI study

We studied cerebral perfusion and oxygen metabolism in three patients with chorea‐acanthocytosis using positron‐emission tomography and oxygen‐15 labeled O2 and CO2. High‐field magnetic resonance imaging also was performed. Regional cerebral blood flow (rCBF) and oxygen metabolism (rCMRO2) were significantly reduced in the caudate and putamen when compared with seven control subjects. Mild but significant reductions of rCBF (lower than the normal control values ‐2 SD) were found in the bilateral frontal, left temporal and parietal, and bilateral thalamic areas; rCMRO2 was reduced in the bilateral frontal and left temporal areas. Magnetic resonance imaging showed increased signal intensity accompanied by scattered bright spots in the caudate head and putamen on T2‐weighted images; decreased signal intensity was shown at these sites on T1‐weighted images. These findings were not observed in 10 neurologically normal volunteers and are rare in the common hyperkinetic form of Huntington's disease. Reduced cerebral perfusion and oxygen metabolism seem to be related to the intellectual and personality changes that occur in chorea‐acanthocytosis. Combined positronemission tomography and magnetic resonance imaging studies may improve diagnostic accuracy in patients with choreaacanthocytosis and related disorders.