Hong Seungbeen, Lee Su Ji, Cho Sung-Rae
Department and Research Institute of Rehabilitation Medicine, Yonsei University College of Medicine, Seoul, Korea.
Brain Korea 21 PLUS Project for Medical Science, Yonsei University, Seoul, Korea.
Brain Neurorehabil. 2019 Dec 16;13(1):e9. doi: 10.12786/bn.2020.13.e9. eCollection 2020 Mar.
We present a 33-year-old male patient with cerebellar ataxia. He was first considered to have a psychiatric conversion disorder but finally found to have chromosomal deletion in 7q31.2-31.32 involving () gene. When a targeted gene sequencing using next-generation sequencing panel and chromosomal microarray analysis were performed, an 8.6 Mb deletion within chromosome 7q31.2-31.32 was discovered. Deletion of gene in the 7q31.2-31.32 was suggested as the causative factor of cerebellar ataxia. Functional levels evaluated by Berg balance scale and modified Barthel index were improved via comprehensive rehabilitation including balance training and a dopamine agonist medication. To the best of our knowledge, this is the first report of chromosomal deletion in 7q31.2-31.32 including gene detected in patients with cerebellar ataxia.
我们报告一名33岁患有小脑共济失调的男性患者。他最初被认为患有精神性转换障碍，但最终发现其7q31.2 - 31.32存在染色体缺失，涉及（）基因。当使用新一代测序面板进行靶向基因测序和染色体微阵列分析时，发现7号染色体q31.2 - 31.32区域内有一个8.6 Mb的缺失。7q31.2 - 31.32区域内（）基因的缺失被认为是小脑共济失调的致病因素。通过包括平衡训练和多巴胺激动剂药物治疗在内的综合康复治疗，通过伯格平衡量表和改良巴氏指数评估的功能水平得到了改善。据我们所知，这是首次在小脑共济失调患者中检测到7q31.2 - 31.32包括（）基因的染色体缺失的报告。
