Ren Wen-Qing, Yin Feng, Zhang Jian-Ning, Lu Wang-Sheng, Liang Ying-Kui, Adlerberth Josefin, Tian Zeng-Min
Institute of Neurosurgery, The PLA Navy General Hospital, Beijing 100048, P.R. China.
PET Center, The PLA Navy General Hospital, Beijing 100048, P.R. China.
Exp Ther Med. 2016 Aug;12(2):661-666. doi: 10.3892/etm.2016.3392. Epub 2016 May 25.
Primary torsion dystonia (PTD) occurs due to a genetic mutation and often advances gradually. Currently, there is no therapy available that is able to inhibit progression. Neural stem cells (NSCs) are being investigated as potential therapies for neurodegenerative diseases, such as stroke and trauma. The present study evaluated the clinical effectiveness of NSC transplantation in an 18-year-old male patient with PTD, to assess the ability of this therapy to inhibit PTD progression. Genetic testing of the patient revealed a mutation in the torsion dystonia-1 () gene (907-909 delGAG). NSCs were bilaterally implanted in the globus pallidus of the patient through stereotactic surgery. Prior to surgery, the patient's Burke-Fahn-Marsden dystonia movement score (BFMDMS) was 21, which progressively decreased after surgery to 18, 17, 15 and 13 at 1, 2, 3 and 4 postoperative years, respectively. BFMDMS was improved by 38.1% over the 4 postoperative years. Although computed tomography and magnetic resonance imaging examinations showed no significant changes prior to and following surgery, postoperative brain positron emission tomography scans revealed increased glucose metabolism in the transplanted region. The clinical efficacy of NSC transplantation in this patient suggests its potential for the treatment of -positive patients with PTD.
原发性扭转肌张力障碍（PTD）由基因突变引起，且通常会逐渐进展。目前，尚无能够抑制其进展的治疗方法。神经干细胞（NSCs）正在作为治疗诸如中风和创伤等神经退行性疾病的潜在疗法进行研究。本研究评估了神经干细胞移植对一名18岁男性PTD患者的临床疗效，以评估该疗法抑制PTD进展的能力。对该患者的基因检测发现扭转肌张力障碍1（）基因存在突变（907 - 909 delGAG）。通过立体定向手术将神经干细胞双侧植入患者的苍白球。手术前，患者的伯克 - 法恩 - 马斯登肌张力障碍运动评分（BFMDMS）为21分，术后逐渐下降，术后1年、2年、3年和4年分别降至18分、17分、15分和13分。术后4年BFMDMS改善了38.1%。尽管计算机断层扫描和磁共振成像检查显示手术前后无明显变化，但术后脑正电子发射断层扫描显示移植区域的葡萄糖代谢增加。该患者神经干细胞移植的临床疗效表明其对 -阳性PTD患者具有治疗潜力。
