Bing Shijia, Yi Xia, Tang Xiangqi
Department of Neurology, Second Xiangya Hospital, Central South University, Changsha 410011.
Hunan Provincial University Key Laboratory of the Fundamental and Clinical Research on Neurodegenerative Diseases, Changsha Medical University, Changsha 410219, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2024 Apr 28;49(4):637-642. doi: 10.11817/j.issn.1672-7347.2024.230438.
The incidence rate of Parkinson's disease ranks the second among degenerative diseases of the nervous system, only lower than Alzheimer's disease. Early-onset Parkinson's disease (EPOD) refers to Parkinson's disease with initial symptoms appearing before the age of 50. EOPD is associated with certain genetic mutations and has distinct clinical features. This study reports a case of EOPD with mutations in both the and the genes. The patient presented with the initial symptom of unstable walking at the age of 28, followed by bradykinesia, limb tremors, masked face, shuffling gait, and cogwheel rigidity in both upper limbs. The blood lipid test showed total cholesterol of 6.48 mmol/L and low-density lipoprotein cholesterol of 4.13 mmol/L. Genetic testing showed a deletion in exon 5 and a point mutation [c.850G>C(p.Gly284Arg)] in exon 7 of the gene, as well as a point mutation [c.10579C>T(p.Arg3527Trp)] in exon 26 of the gene. Based on these clinical manifestations and examination results, the patient was diagnosed with EOPD. The compound heterozygous mutations in the gene, as well as the combined mutations in the and genes, are both reported for the first time, expanding the spectrum of genetic mutations associated with EOPD.
帕金森病的发病率在神经系统退行性疾病中位居第二，仅次于阿尔茨海默病。早发性帕金森病（EPOD）是指初始症状出现在50岁之前的帕金森病。EOPD与某些基因突变相关，具有独特的临床特征。本研究报告了一例同时存在 和 基因双突变的EOPD病例。该患者28岁时以行走不稳为初始症状，随后出现运动迟缓、肢体震颤、面具脸、拖步及双上肢齿轮样强直。血脂检查显示总胆固醇为6.48 mmol/L，低密度脂蛋白胆固醇为4.13 mmol/L。基因检测显示 基因外显子5缺失及外显子7存在点突变[c.850G>C(p.Gly284Arg)]， 基因外显子26存在点突变[c.10579C>T(p.Arg3527Trp)]。基于这些临床表现和检查结果，该患者被诊断为EOPD。 基因的复合杂合突变以及 和 基因的联合突变均为首次报道，拓宽了与EOPD相关的基因突变谱。
