Dentatorubropallidoluysian atrophy: Clinicopathological study of eight autopsy cases with special reference to the clinicopathological correlation between pyramidal sign and involvement of the pyramidal tract

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Abstract
This paper reports a clinicopathological study of eight Japanese patients with dentatorubropallidoluysian atrophy (DRPLA) with special reference to the clinicopathological correlation between the pyramidal sign and involvement of the pyramidal tract. None of the patients were related. There were five males and three females with age at disease onset ranging from 8 to 43 years, and the length of clinical course from 12 to 28 years. In each case the pattern of inheritance of the disease was consistent with that of an autosomal dominant trait. The neurological examination revealed that all eight individuals had dementia and showed cerebellar signs. Seven patients had epilepsy and choreoathetoid involuntary movement; myoclonus was evident in six cases. Degeneration of the globus pallidus (the lateral segment in particular) and of the dentate nucleus were the principal pathological features of the DRPLA patients. Pyramidal signs were noted in four patients. Evidence of pyramidal tract involvement was found in three cases. However, the clinicopathological correlation between pyramidal sign and pyramidal tract involvement was weak as there was concurrence of both in only one case. We suggest that pyramidal signs are being overlooked in DRPLA.