Frontotemporal and striatal SPECT abnormalities in myoclonus-dystonia: phenotypic and pathogenetic considerations.

BACKGROUND AND PURPOSE: Myoclonus-dystonia (MD) is a rare movement disorder characterized by myoclonic jerks, dystonia and a variety of psychiatric symptoms. Neuroimaging and electrophysiologic studies have not been able to detect any specific central nervous system abnormality. We report for the first time a well-characterized case with MD and abnormal brain perfusion imaging using single photon emission computed tomography (SPECT) with (99m)Tc-ethyl cysteinate dimer (ECD). A review of the literature on the phenotypic and pathogenetic considerations for MD is also presented.

METHODS

To better define the functional regional central nervous system involvement in MD, we conducted a brain perfusion SPECT with (99m)Tc-ECD in a patient diagnosed with typical disease.

RESULTS

Analysis of the SPECT data revealed significantly reduced regional cerebral blood flow (rCBF) in both temporal lobes (left > right and medial > lateral). Reduced rCBF was also observed in both frontal lobes and the right caudate nucleus.

CONCLUSIONS

Our findings of reduced frontotemporal and striatal rCBF in the absence of other neuroimaging and electrophysiologic findings correlate well with the clinical manifestations in our patient and suggest possible functional/metabolic involvement of these areas in the etiopathogenesis of MD.