OBJECTIVE: To thoroughly explore the clinical characteristics of Huntington disease in China.METHODS: A computer-based online search of China National Knowledge Infrastructure was performed to review case reports concerning Huntington disease published between 1980 and 2008;the clinical characteristics were analyzed.RESULTS: A total of 80 studies involving 243 patients (142 males and 101 females) were collected,82.0% of which were from provinces of North China.In addition,97.1% of the cases had a family history of Huntington disease,and paternal inheritance (64.6%) was greater than maternal inheritance (35.4%).Moreover,onset age was significantly less than from maternal inheritance.The mean onset age of Huntington disease was (35.2 ± 11.5) years,mean age of death was (45.6 ± 13.5) years,and the mean course of disease from onset to death was (11.6 ± 5.6) years.Onset characterized by involuntary movement accounted for 47.7%,including 66.4% in the entire body,16.4% in the upper limbs,and 14.7% in the head and face.Psychiatric symptoms accounted for 18.1%,and disturbed intelligence accounted for 2.1%.With disease progression,99.5% of patients exhibited involuntary movement,69.8% displayed cognitive impairment,and 39.2% suffered from psychiatric symptoms.In addition,38.7% of patients were complicated by dysarthria,dysphagia,and cough after drinking.A total of 70.8% of patients exhibited an abnormal electroencephalogram,18.8% had mild abnormalities in the cerebrospinal fluid,and 70.1% displayed brain atrophy and lateral ventriculomegaly on CT or MRI.A total of 88.9% of patients scored ≤ 23 in the Mini-Mental State Examination (MMSE).Of the reported patients,only 22 underwent IT15 gene testing with positive results.CONCLUSION: Huntington disease is more frequently detected in males than females,and the majority has a family history.The disease has high incidence in Northern China,in particular with paternal inheritance.In addition,the disease often struck middle-aged people,and the time of onset in paternal inheritance was earlier than maternal inheritance.There were no significant differences in age of onset between males and females,and the course of disease was not related to paternal or maternal inheritance.The symptoms of onset included involuntary movement,complicated by psychiatric symptoms,and rarely cognitive impairment.In addition,involuntary movement of the pharynx was commonly observed in patients.Genetic detection has been the gold standard for clinical diagnosis of Huntington disease,and more attention should be paid to this detection method. OBJECTIVE: To thoroughly explore the clinical characteristics of Huntington disease in China. METHODS: A computer-based online search of China National Knowledge Infrastructure was conducted to review case reports concerning Huntington disease published between 1980 and 2008; the clinical characteristics were analyzed .RESULTS: A total of 80 studies involving 243 patients (142 males and 101 females) were collected, 82.0% of which were from provinces of North China. In addition, 97.1% of the cases had a family history of Huntington disease, and paternal inheritance (64.6 %) was greater than maternal inheritance (35.4%). Moreover, onset age was significantly less than from maternal inheritance. The mean onset age of Huntington disease was (35.2 ± 11.5) years, mean age of death was (45.6 ± 13.5) years , and the mean course of disease from onset to death was (11.6 ± 5.6) years. Onset characterized by involuntary movement accounted for 47.7%, including 66.4% in the entire body, 16.4% in the upper limbs, a nd 14.7% in the head and face. Psychiatric symptoms accounted for 18.1%, and disturbed intelligence accounts for 2.1% .With disease progression, 99.5% of patients exhibited involuntary movement, 69.8% displayed cognitive impairment, and 39.2% suffered from psychiatric symptoms. In addition, 38.7% of patients were complicated by dysarthria, dysphagia, and cough after drinking. A total of 70.8% of patients showed an abnormal electroencephalogram, 18.8% had mild abnormalities in the cerebrospinal fluid, and 70.1% displayed brain atrophy and lateral ventriculomegaly on CT or MRI. A total of 88.9% of patients scored ≤ 23 in the Mini-Mental State Examination (MMSE). Of the reported patients, only 22 underwent IT15 gene testing with positive results. CONCLUSION: Huntington disease is more frequently detected in males than females, and the majority has a family history. the disease has high incidence in Northern China, in particular with paternal inheritance.In addition, the disease often struck middle-aged people, and the time of onset in paternal inheritance was earlier than maternal inheritance. earlier than maternal inheritance. where no significant differences in age of onset between males and females, and the course of disease was not related to paternal or maternal inheritance. symptoms. movement, complicated by psychiatric symptoms, and rarely cognitive impairment. In addition, involuntary movement of the pharynx was commonly observed in patients. Genetic detection has been the gold standard for clinical diagnosis of Huntington disease, and more attention should be paid to this detection method .