PRKN基因合并APOB基因突变的早发型帕金森病1例  

Early-onset Parkinson’s disease with mutations in both the PRKN gene and the APOB gene:A case report

作　　者：邴诗佳 易霞 唐湘祁[1] 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)

机构地区：[1]中南大学湘雅二医院神经内科,长沙410011 [2]长沙医学院神经变性病基础与临床湖南省普通高等学校重点实验室,长沙410219

出　　处：《中南大学学报（医学版）》2024年第4期637-642,共6页Journal of Central South University ：Medical Science

摘　　要：帕金森病的发病率位居神经系统退行性疾病的第二,仅次于阿尔茨海默病。早发型帕金森病(early-onset Parkinson’s disease,EOPD)指50岁前出现首发症状的帕金森病。EOPD与基因突变有一定的关系,并有独特的临床特征。本文报告1例PRKN基因合并APOB基因突变的EOPD,该患者于28岁时出现行走不稳的首发症状,后续出现动作迟缓、四肢震颤等症状。体格检查示:面具脸,慌张步态,双上肢肌张力齿轮样增高。总胆固醇6.48 mmol/L,低密度脂蛋白胆固醇4.13 mmol/L。PRKN基因外显子5缺失,外显子7点突变[c.850G>C(p.Gly284Arg)];APOB基因外显子26点突变[c.10579C>T(p.Arg3527Trp)]。根据上述临床表现及检查结果,该患者被诊断为EOPD。PRKN基因的复合杂合突变及PRKN基因合并APOB基因突变均为首次报道,这丰富了EOPD的基因突变类型谱。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 PRKN and the APOB 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 PRKN gene,as well as a point mutation[c.10579C>T(p.Arg3527Trp)]in exon 26 of the APOB gene.Based on these clinical manifestations and examination results,the patient was diagnosed with EOPD.The compound heterozygous mutations in the PRKN gene,as well as the combined mutations in the PRKN and APOB genes,are both reported for the first time,expanding the spectrum of genetic mutations associated with EOPD.

关 键 词：早发型帕金森病 四肢震颤 PRKN基因 APOB基因 

分 类 号：R742.5[医药卫生—神经病学与精神病学]