@article {Tezenas du Montcel10.1212/WNL。0000000000207088，作者= {Tezenas du Montcel, Sophie and Petit, Emilien and Olubajo, Titilayo and Faber, Jennifer and Lallemant-Dudek, Pauline and Bushara, Khalaf and Perlman, Susan and Subramony, Sub H and Morgan, David and Jackman, Brianna and Paulson, Henry Lauris and {"O}z, G{"u}lin and Klockgether, Thomas and Durr, Alexandra and Ashizawa, Tetsuo and，}，标题={脊髓小脑性共济失调1和3患者的基线临床和血液生物标志物，location-id = {10.1212/WNL。0000000000207088}， year = {2023}， doi = {10.1212/WNL。0000000000207088}，出版商= {Wolters Kluwer健康公司代表美国神经病学学会}，摘要={背景和目的:在脊髓小脑性共济失调中，共济失调发作前可伴有轻度临床表现、小脑和/半岛投注体育官网或脑干改变或生物标志物改变。READISCA是一项针对1型和3型脊髓小脑性共济失调患者的前瞻性、纵向观察性研究，旨在为治疗干预提供必要的标志物。我们寻找出现在疾病早期阶段的临床、影像学或生物学标记。方法:我们从18个美国和2个欧洲共济失调转诊中心招募病理性ATXN1或ATXN3扩增携带者和对照者。比较了突变携带者有共济失调和对照组之间的临床、认知、定量运动、神经心理学测量和血浆神经丝轻链(NfL)测量。结果:我们招募了200名参与者:45名病理性ATXN1扩增携带者(31名共济失调患者(SARA中位数:9[7;10])，14名突变携带者无共济失调(1[0;2]))和116名病理性ATXN3扩增携带者(80名共济失调患者(7[6;9])，36名突变携带者无共济失调(1[0;2]))。 In addition, we enrolled 39 controls who did not carry a pathological expansion in ATXN1 or ATXN3. Plasma NfL levels were significantly higher in mutation carriers without ataxia than controls, despite similar mean age (controls: 5.7 pg/mL, SCA1: 18.0 pg/mL (P \<0.0001), SCA3: 19.8 pg/mL (P\<0.0001). Mutation carriers without ataxia differed from controls by significantly more upper motor signs (SCA1 P=0.0003, SCA3 P=0.003) and by the presence of sensor impairment and diplopia in SCA3 (P=0.0448, and 0.0445 respectively). 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.}, issn = {0028-3878}, URL = {//www.ebmtp.com/content/early/2023/02/16/WNL.0000000000207088}, eprint = {//www.ebmtp.com/content/early/2023/02/16/WNL.0000000000207088.full.pdf}, journal = {Neurology} }