RT期刊文章SR电子T1基线临床和血液生物标志物Preataxic和早期疾病患者脊髓小脑的共济失调1和3摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯10.1212 SP / WNL。半岛投注体育官网0000000000207088 10.1212 / WNL。0000000000207088 A1 Tezenas du Montcel,苏菲A1小,Emilien A1 Olubajo, Titilayo A1 Faber,詹妮弗A1 Lallemant-Dudek,波林A1 Bushara, A1珀尔曼夫苏珊•A1 Subramony _h A1摩根,大卫A1杰克曼,布丽安娜A1保尔森,亨利·罗莉A1 Oz Gulin A1 Klockgether,托马斯A1·杜尔,亚历山德拉A1 Ashizawa, Tetsuo A1,年2023 UL //www.ebmtp.com/content/early/2023/02/16/WNL.0000000000207088.abstract AB背景和目的:在脊髓小脑的共济失调,共济失调出现之前可以半岛投注体育官网轻微的临床表现,小脑和/或脑干病变或生物标记的修改。READISCA是一个前瞻性纵向观察研究患者的脊髓小脑的共济失调1型和3为治疗干预措施提供必要的标记。我们寻找临床、影像或生物标记出现在疾病的早期。方法:我们注册运营商病理ATXN1或ATXN3扩张和控制从18岁美国和两个欧洲共济失调转诊中心。临床、认知、定量马达、神经心理措施和等离子体神经丝轻链(NfL)测量突变携带者之间比较有和没有共济失调和控制。结果:我们招收了200名参与者:45运营商病理ATXN1扩张(31共济失调患者(平均莎拉:9[7,10]),14个突变携带者没有共济失调(1(0,2)))和116家运营商病理ATXN3扩张(80共济失调患者(7[6,9]),36个突变携带者没有共济失调(1 (0,2)))。此外,我们为39控制不携带ATXN1或ATXN3病理扩张。等离子体NfL突变携带者没有共济失调的水平明显高于控制,尽管类似的平均年龄(控制:5.7 pg / mL, SCA1: 18.0 pg / mL (P < 0.0001), SCA3: 19.8 pg / mL (P < 0.0001)。突变携带者没有共济失调不同于由更上电机控制信号(SCA3 SCA1 P = 0.0003, P = 0.003)和传感器存在的障碍和复视SCA3 (P = 0.0448, 0.0445)。 Functional scales, fatigue and depression scores, swallowing difficulties, and cognitive impairment were worse in mutation carriers with ataxia than those without ataxia. Ataxic SCA3 subjects showed extrapyramidal signs, urinary dysfunction and lower motor neuron signs significantly more often than mutation carriers without ataxia.Discussion: READISCA showed the feasibility of harmonized data acquisition in a multi-national network. NfL alterations, early sensory ataxia and corticospinal signs were quantifiable between preataxic participants and controls. Patients with ataxia differed in many parameters from controls and mutation carriers without ataxia, with a graded increase of abnormal measures from control to preataxic to ataxic cohorts.