Alafifi Tariq, Bakhsh Abdul Rahim Ali, Elbashari Mahfoud, Abouelnaga Mohamed El Hosseiny, Eldimllawi Ahmed Medhat
Department of Neurology, Zayed Military Hospital, Abu Dhabi, UAE.
Department of Internal Medicine, Zayed Military Hospital, Abu Dhabi, UAE.
Oman Med J. 2020 Jun 30;35(3):e140. doi: 10.5001/omj.2020.58. eCollection 2020 May.
Between 3-5% of all patients with Parkinson's disease (PD) have onset before the age of 40 years, which is likely related to genetic causes. Parkin gene mutations are the most common mutations, which are associated with autosomal recessive early-onset PD. A 34-year-old Emirati female presented with complaints of limb and speech tremor. She had been having difficulties in initiating movement and speech during her job. These problems began two years ago and had become progressively worsened. Her medical history was significant for generalized seizures for the past three years, which was well controlled with prescription medications. She was unaware of any family members with Parkinson's or any genetic disorders. Her examination revealed a reduction in eyelid blinking movement and hypomimia facial appearance. She had severe bilateral upper and lower extremity rigidity, which was more evident on her right side. While resting, the patient exhibited bilateral pin-rolling tremors in both of her upper extremities. Her gait was shuffling in nature with reduced arm swing and abnormal retropulsion. All of her laboratory investigations were normal. Genetic analysis revealed a homozygous 1 base pair insertion in exon 5 of gene (c.601_602insA), resulting in a nonsense mutation causing a stop codon instead of a cysteine codon (p. Cys201X). The patient showed an excellent response to treatment. We described a case of early-onset PD in a female, who on genetic analysis, was found to have a previously undescribed homozygous mutation in the gene.
所有帕金森病（PD）患者中，有3%至5%在40岁之前发病，这可能与遗传因素有关。帕金基因突变是最常见的突变，与常染色体隐性早发性帕金森病有关。一名34岁的阿联酋女性因肢体和言语震颤前来就诊。她在工作时开始出现运动和言语方面的困难。这些问题始于两年前，且逐渐恶化。她的病史显示过去三年有全身性癫痫发作，通过处方药得到了很好的控制。她不知道有任何家庭成员患有帕金森病或任何遗传疾病。检查发现她的眼睑眨眼运动减少，面部表情减少。她双侧上肢和下肢严重僵硬，右侧更明显。休息时，患者双上肢出现双侧搓丸样震颤。她的步态拖沓，摆臂减少且有异常的后冲。她所有的实验室检查均正常。基因分析显示基因外显子5有一个纯合的1个碱基对插入（c.601_602insA），导致无义突变，产生一个终止密码子而非半胱氨酸密码子（p.Cys201X）。该患者对治疗反应良好。我们描述了一例女性早发性帕金森病病例，经基因分析发现该基因存在一个此前未描述的纯合突变。
