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PRKN基因复合杂合突变致青少年型帕金森病1例报告及文献复习
李倩,康春阳,刘晓阳,王立波,陈加俊,李佳
PDF(825 KB)
PDF(825 KB)
PRKN基因复合杂合突变致青少年型帕金森病1例报告及文献复习
)Juvenile Parkinson’s disease caused by PRKN gene compound heterozygous mutation: A case report and literature review
)目的 对1例青少年型帕金森病（JP）患者家系进行基因分析，探讨PRKN基因复合杂合突变所致JP患者临床表现、基因突变特点和诊治方案，以提高临床医生对该病的认识。 方法 分析1例PRKN基因突变所致JP患者临床资料，对其临床表现和基因突变特点进行总结，并结合相关文献进行复习。 结果 患者，男性，16岁，因行走不稳、四肢抖动伴双下肢僵硬3年入院。查体，慌张步态，神志清楚，言语流利，四肢肌力正常，双上肢呈“齿轮样”肌张力增高，双下肢呈“铅管样”强直，感觉功能正常，腱反射正常。头部、颈部和胸部磁共振成像（MRI）未见异常。18F脱氧葡萄糖（18F-FDG）正电子发射断层显像/计算机断层扫描（PET/CT）显示头部大小和形态正常，左小脑和颞中回的葡萄糖代谢减少，双侧丘脑、右额叶、顶颞叶和左内侧额叶糖代谢略有增加。多巴胺转运体（DAT）PET/CT显示脑皮质中无放射性分布，两侧壳核后部DAT分布不均匀减低。全外显子组基因检测，患者PRKN基因存在2处基因突变，为密码子c.8T>A/c.850G>C复合杂合突变，2处突变分别来自父母，父亲携带c.8T>A基因突变，母亲携带c.850G>C基因突变，患者姐姐基因突变位点与父亲相同。 结论 PRKN基因复合杂合突变可能是该家系疾病的基础。基因突变c.8T>A的鉴定扩大了PRKN基因的突变谱，为研究JP患者致病性基因突变提供了有效信息。
Objective To conduct the genetic analysis of a family with one patient suffering from juvenile Parkinson’s disease （JP） and discuss the clinical manifestations， genetic mutation characteristics， and treatment plans prompted by PRKN gene compound heterozygous mutations，and to enhance the clinicians’ awareness of this disease. Methods The clinical data of one patient with JP caused by PRKN gene mutations was analyzed， the clinical manifestations and genetic mutation features of the patient were summarized， and the related literatures were reviewed. Results The patient， a 16-year-old male， was admitted to the hospital due to unstable gait， trembling limbs with rigidity in both lower limbs for three years.The examination results revealed a panic gait， clear consciousness， fluent speech， normal muscle strength in limbs， increased “gear-like” muscle tone in both upper limbs， and “lead-pipe” rigidity in both lower limbs；the sensory functions and tendon reflexes were normal. The head， neck， and thoracic magnetic resonance imaging （MRI） results showed no abnormalities. 18F-fluorodeoxyglucose （18F-FDG） positron emission tomography/computed tomography （PET/CT）results showed that the head size and shape were normal， the glucose metabolism in the left cerebellum and middle temporal gyrus was slightly decreased， and the glucose metabolism in bilateral thalami， right frontal lobe， parietotemporal lobe， and left medial frontal lobe was increased. The dopamine transporter （DAT） PET/CT results showed that there was no radioactive distribution in the brain cortex and the DAT distribution in the posterior part of both striata was decreased. The whole-exome sequencing results showed the patient had two PRKN gene mutations，such as codons c.8T>A and c.850G>C compound heterozygous mutations，and each mutation was from one parent；the patient’s father carried the c.8T>A mutation， the patient’s mother carried the c.850G>C mutation， and the patient’s sister had the same genetic mutation site as the patient’s father. Conclusion PRKN gene compound heterozygous mutations may be the basis of the disease in this family. Identification of the mutation c.8T>A expands the mutation spectrum of the PRKN gene， and provides the valuable information for the research on the pathogenic genetic mutations of the JP patients.
Juvenile / Parkinson’s disease / PRKN gene / Gene mutation
R748
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