RT杂志文章SR电子T1基线临床和血液生物标志物在共济失调前和早期疾病脊髓小脑性共济失调1和3患者JF神经学JO神经学FD Lippincott Williams & Wilkins SP 10.1212/WNL.0000000000207088首页10.1212 / WNL.0000000000207088A1 Sophie Tezenas du Montcel A1 Emilien Petit A1 Titilayo Olubajo A1 Jennifer Faber A1 Pauline Lallemant-Dudek A1 Khalaf Bushara A1 Susan Perlman A1 Sub H Subramony A1 David Morgan A1 Brianna Jackman A1 Henry Lauris Paulson A1 Gülin Öz A1 Thomas Klockgether A1 Alexandra Durr A1 Tetsuo Ashizawa A1 for READISCA Consortium合作者YR 2023 UL //www.ez-admanager.com/co首页ntent/early/2023/02/16/WNL.0000000000207088.abstract AB背景和目标:在脊髓小脑性共济失调中，共济失调发病前可伴有轻度临床表现、小脑和/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]))。此外，我们招募了39名在ATXN1或ATXN3中未携带病理性扩增的对照组。 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.

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