Dentatorubral-pallidoluysian Atrophy:Case Report And Literature Review

ObjectiveTo improve the understanding of Dentatorubral-pallidoluysian Atrophy(DRPLA)by reporting a pedigree and analyzing and summarizing the clinical features of Chinese patients with DRPLA.Materials and methodsWe reported one pedigree case of DRPLA which was diagnosed in our hospital,then searched the Chinese cases in domestic and foreign literatures,and finally summarized the epidemic,clinical,genetic features,etc of DRPLA.ResultsOne pedigree case of DRPLA was reported,including 8 members with symptoms,3 patients with definitive diagnosis,and the proband had an onset of cervical dystonia at the age of 18.We reviewed 26 pedigree cases including 43 patients,which had been reported previously,and summarized the clinical features as follows:(1)Among the 43 patients,the male-to-female ratio was about 1.5:1 and the average age was 32.34±16.72(ranging from 3 to 69),with the more cases from southern China.(2)DRPLA is classified into juvenile type(onset age<20)and adult type(onset age>20).Epilepsy and cognitive dysfunction was more common in juvenile-type patients,while the frequency of ataxia in both types was high.(3)MRI findings of DRPLA were typically characterized by atrophic changes in the brainstem and cerebellum,however exceptionally,partial patients had no such MRI characteristics.(4)A significant relationship was identified between the numbers of CAG repetition and age of onset,which was that larger numbers of CAG repetition meant earlier onset age.Besides,the type of onset was also affected by the numbers of CAG repetition,which was that patients with CAG repetition number>65 mainly had an onset of epilepsy and cognitive dysfunction,and patients with CAG repetition number ?65 mainly had an onset of ataxia.(5)There was genetic anticipation in DRPLA patients,and the further analysis suggests that the more the CAG repetition numbers increase,the more the onset age reduces.Intergenerational increase of CAG repetition number from paternal inheritance was more obvious than that of maternal inheritance.ConclusionAs in other populations with DRPLA,Chinese DRPLA patients also showed complex and changeable clinical symptoms,which were related to the onset age and CAG repetition number.MRI findings of DRPLA were typically characterized by atrophic changes in the brainstem and cerebellum.Genetic anticipation also was a striking feature in Chinese DRPLA patients.