| Pedigree analysis of spinocerebellar ataxia type 3 disease |
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| Citation of this paper:YU Qing-yun1, WU Wei-wen2, DING Jing1*, WANG Xin1.Pedigree analysis of spinocerebellar ataxia type 3 disease[J].Chinese Journal of Clinical Medicine,2018,25(5):769-772 |
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| Author Name | Affiliation | | YU Qing-yun1, WU Wei-wen2, DING Jing1*, WANG Xin1 | 1. Department of Neurology, Zhongshan Hospital, Fudan university, Shanghai 200032, China
2. Department of Neurology, Qingpu Branch, Zhongshan Hospital, Fudan university, Shanghai 201700, China |
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| Abstract:Objective：To report a case of spinocerebellar ataxia type 3 (SCA3) family,and analyze clinical manifestation and pathological by literature review, in order to provide experience for clinical diagnosis and treatment of the disease.
Methods：The proband, female, 28 years old, presented in October 2016 because of unstable walking for more than 2 years. The clinical manifestations, physical examination, imaging, and family data of the proband, and performed genetic testing on the proband and family were analyzed.
Results：The proband of this family mainly manifested as unstable walking, unclear speech, choking cough in drinking water, dysarthria, clumsy and stiff hands, decreased vision, vague speech, horizontal eye gaze (＋), increased muscular tension of both lower limbs, hyperreflexia of the tendons of the limbs, patellar clonus and ankle clonus (+), bilateral Babinski sign (±), Chaddock sign (±), scissors gait, relatively normal heel-to-knee-to-shin test, Romberg test (+), and clinical manifestations included spastic paraplegia and ataxia. For the proband, the number of repetitions of (CAG) was 69, exceeding the normal range.The first generation of the family was onset at 45 years old. The second generation was onset at 40 years old and 42 years old, respectively. The third generation (the proband) was onset at 26 years old. The 4th generation, the proband’s son and daughter. At present, there has been no apparent abnormal performance. The main clinical manifestations of the proband were ataxia and spastic paraplegia. The patient’s grandfather, mother, and mother’s brother mainly manifested as cerebellar ataxia symptoms.
Conclusions：Four people in the four generations of the proband family developed the disease, mainly manifested as cerebellar ataxia, and the onset age of the family was advanced from generation to generation. |
| keywords:spinocerebellar ataxia type 3 CAG repeats pedigree analysis |
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