Jamora Roland Dominic G, Chang Wei-Chieh, Taira Takaomi
Division of Adult Neurology, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila 1000, Philippines.
Section of Neurology and Movement Disorder Service, Institute for Neurosciences, St. Luke's Medical Center, Global City 1635, Philippines.
Life (Basel). 2021 Apr 26;11(5):392. doi: 10.3390/life11050392.
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative condition found among males with maternal ancestry from Panay Island, Philippines. The treatment options are limited. We report on our experience of three XDP patients who underwent transcranial magnetic resonance-guided focused ultrasound (tcMRgFUS) pallidothalamic tractotomy. The three patients were all genetically confirmed XDP, with a mean XDP-Movement Disorder Society of the Philippines (MDSP) Scale score of 68.7/200. All patients were on stable doses of their oral medications and their last botulinum toxin injection was 12 months prior to study. Two patients complained of moderate to severe arm pain 2-7 months after the procedure. There was an overall improvement in the XDP-MDSP Scale score of 36.2% (18.7 vs. 15) at 6 months and 30.1% (68.7 vs. 45.5) at 1 year. Notably, there was worsening of the nonmotor subscale (part IIIB, nonbehavioral aspect) by 350% at 1 year. While these numbers are encouraging, there is a need to do a larger study on the safety and efficacy of tcMRgFUS on XDP.
X连锁肌张力障碍-帕金森综合征（XDP）是一种在有菲律宾班乃岛母系血统的男性中发现的神经退行性疾病。治疗选择有限。我们报告了3例接受经颅磁共振引导聚焦超声（tcMRgFUS）苍白球丘脑束切断术的XDP患者的经验。这3例患者均经基因确诊为XDP，平均XDP-菲律宾运动障碍协会（MDSP）量表评分为68.7/200。所有患者口服药物剂量稳定，最后一次肉毒毒素注射是在研究前12个月。2例患者在术后2 - 7个月抱怨有中度至重度手臂疼痛。6个月时XDP-MDSP量表评分总体改善36.2%（从18.7降至15），1年时改善30.1%（从68.7降至45.5）。值得注意的是，1年时非运动子量表（第三部分B，非行为方面）恶化了350%。虽然这些数字令人鼓舞，但有必要就tcMRgFUS对XDP的安全性和有效性开展更大规模的研究。
