Kuo Chia-Yan, Yu Pei Shan, Chao Chih-Ying, Wang Chun-Chieh, Fan Wen-Lang, Wu Yih-Ru
Chang Gung University, College of Medicine, Tauyuan, Taiwan.
Department of Neurology, Chang Gung Memorial Hospital, Linkou Medical Center, Tauyuan, Taiwan.
J Mov Disord. 2023 May;16(2):202-206. doi: 10.14802/jmd.22105. Epub 2023 Apr 26.
Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene are associated with substantial clinical heterogeneity. Here, we report the first case of SYNE1 ataxia in Taiwan due to two novel truncating mutations. Our patient, a 53-year-old female, exhibited pure cerebellar ataxia with c.1922del in exon 18 and c. C3883T mutations in exon 31. Previous studies have indicated that the prevalence of SYNE1 ataxia among East Asian populations is low. In this study, we identified 27 cases of SYNE1 ataxia from 22 families in East Asia. Of the 28 patients recruited in this study (including our patient), 10 exhibited pure cerebellar ataxia, and 18 exhibited ataxia plus syndromes. We could not find an exact correlation between genotypes and phenotypes. Additionally, we established a precise molecular diagnosis in our patient's family and extended the findings on the ethnic, phenotypic, and genotypic diversity of the SYNE1 mutational spectrum.
突触核被膜蛋白1（SYNE1）基因突变与显著的临床异质性相关。在此，我们报告台湾首例因两个新的截短突变导致的SYNE1共济失调病例。我们的患者是一名53岁女性，表现为单纯小脑性共济失调，外显子18存在c.1922del突变，外显子31存在c.C3883T突变。先前的研究表明，东亚人群中SYNE1共济失调的患病率较低。在本研究中，我们从东亚22个家庭中鉴定出27例SYNE1共济失调病例。在本研究招募的28例患者（包括我们的患者）中，10例表现为单纯小脑性共济失调，18例表现为共济失调加综合征。我们未发现基因型与表型之间的确切关联。此外，我们在患者家族中建立了精确的分子诊断，并扩展了关于SYNE1突变谱的种族、表型和基因型多样性的研究结果。
