Spinocerebellar ataxia type 3 with dopamine-responsive dystonia:A case report  

作　　者：Xiao-Le Zhang Xiao-Bo Li Fa-Feng Cheng Shu-Ling Liu Wen-Chao Ni Fei-Fei Tang Qing-Guo Wang Xue-Qian Wang 

机构地区：[1]School of Basic Medical Sciences,Beijing University of Chinese Medicine,Beijing 100029,China [2]Internal Medicine-Neurology,Xi'an Third Hospital,Xi'an 710000,Shaanxi Province,China

出　　处：《World Journal of Clinical Cases》2021年第28期8552-8556,共5页世界临床病例杂志

基　　金：the National Natural Science Foundation of China,No.81874448 and No.81973789.

摘　　要：BACKGROUND Spinocerebellar ataxia type 3(SCA3)is a rare neurodegenerative disease with high genetic heterogeneity.SCA3 mainly manifests as progressive cerebellar ataxia accompanied by paralysis of extraocular muscles,dysphagia,lingual fibrillation,pyramidal tract sign,and extrapyramidal system sign.However,it rarely has clinical manifestations similar to Parkinson-like symptoms,and is even rarer in patients sensitive to dopamine.We report a patient initially diagnosed with dopamine-responsive dystonia who was ultimately diagnosed with SCA3 by genetic testing,which was completely different from the initial diagnosis.CASE SUMMARY A 40-year-old Chinese woman was admitted to hospital due to severe inflexibility.At the beginning of the disease,she presented with anxiety and sleep disorder.At the later stage,she presented with gait disorder,which was similar to Parkinson's disease.Her medical history was unremarkable,but her mother,grandmother,and uncle all had similar illnesses and died due to inability to take care of themselves and related complications.Laboratory and imaging examinations showed no abnormalities,but electromyography and electroencephalography revealed delayed somatosensory evoked potentials and slow background rhythm,respectively.Her symptoms fluctuated during the daytime,and we initially diagnosed her with dopamine-responsive dystonia.After treatment with lowdose levodopa,the patient’s symptoms were significantly improved,but the final genetic diagnosis was SCA3.CONCLUSION SCA3 has various clinical phenotypes and needs to be differentiated from Parkinson's syndrome and dopamine-responsive dystonia.

关 键 词：Spinocerebellar ataxia type 3 Dopamine-responsive dystonia Gene phenotype Clinical phenotype Differential diagnosis Case report 

分 类 号：R741[医药卫生—神经病学与精神病学]