% 0期刊文章%玛丽亚Thereza Drumond指出伽马%卡米拉c . Piccinin %的蒂亚戈Rezende琼奇拉%帕特里克·迪翁%一个卷轴% Marcondes Cavalcante语言,初级% Jose Luiz Pedroso奥兰多Barsottini % % T多通道神经影像学分析巴西SYNE1共济失调患者(P1.070) % D J神经病学2018% % P P1.070 % V 90% N 15补充% X目的:本研究的目的是执行一个探索性多通道神经影像分析的巴西SYNE1为了研究小脑共济失调患者和潜在extra-cerebellar SYNE1的变化。首页背景:SYNE1共济失调是一种隐性疾病引起的基因突变编码一种蛋白质小脑中高度表达。这种疾病首先被认为是纯粹的小脑性共济失调。然而,最近的研究已经描述了一个更广泛的临床表现。尽管这种疾病的遗传特征的发展,很少有神经影像学研究evaluatedSYNE1共济失调。传统的磁共振成像(MRI)通常显示小脑萎缩。设计/方法:我们评估六个SYNE1共济失调患者基因确认。他们完成了临床和影像学检查,比较age-gender-matched健康控制。灰质分析使用FreeSurfer和CERES大脑和小脑。白质分析与DTI-TBSS虽然我们SpineSeg用于脊髓分析。结果:我们发现主要和联合皮层,显著减少皮质厚度和体积减少,小脑皮层下结构。白质被发现在大脑和小脑都中断了。 We failed to demonstrate spinal cord changes.Conclusions: SYNE1 ataxia was first thought to be a purely cerebellar ataxia, however recent studies have shown the diversity of clinical manifestations as well as of genetic variants. The neuroimaging findings of our study are consistent with the phenotypic heterogeneity increasingly recognized.Also, considering the reduced cortical thickness in pre-motor and primary motor areas, and corticospinal tracts involvemtent in SYNE1 ataxia, we may postulate that these changes may be related to the motor neuron disease that may affect some of these patients.Disclosure: Dr. DRUMOND GAMA has nothing to disclose. Dr. Piccinin has nothing to disclose. Dr. Rezende has nothing to disclose. Dr. Dion has nothing to disclose. Dr Rouleau has nothing to disclose. Dr. Franca has nothing to disclose. Dr. Barsottini has nothing to disclose. Dr. Pedroso has nothing to disclose. %U

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