Characteristics of evoked potentials in patients with Dentatorubral-pallidoluysian atrophy (DRPLA) were investigated. Ten patients with DRPLA and 3 patients with other progressive myoclonus epilepsy (PME) participated in the study. Nine patients out of 10 were genetically diagnosed as DRPLA, having 62-75 CAG triplet repeat expansion on chromosome 12p; the other one had not been genetically confirmed but clinically diagnosed as DRPLA and was within the same pedigree as one of the 9 genetically confirmed patients. Two patients with PME out of 3 had been tested for dodecamer repeat expansion in cystatin B gene, and were genetically confirmed as Unverricht-Lundborg disease; the other one was also clinically diagnosed as Unverri-cht-Lundborg disease, but the patient did not have such expansion.Somatosensory evoked potentials (SEP) and auditory brainstem responses (ABR) were recorded. Amplitudes of SEP were determined as peak to peak amplitudes between P2 and N2 deflections.The results of the SEP revealed that none of the DRPLA patients evoked high amplitude SEPs; on the other hand, patients with other PME all evoked high amplitude SEPs.Moreover, brainstem activity in ABR were absent in 5 patients with DRPLA out of 8.These results suggest the difference in pathophysiology between DRPLA, being dominantly affected over brainstem and subcortical regions, and other PME, having cortical hyperexcitability.
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