Programa de Pós-Graduação em Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Serviço de Oftalmologia, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Cerebellum. 2019 Jun;18(3):388-396. doi: 10.1007/s12311-019-1004-3.
Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and retina. SCA7 is quite rare, and insights into biomarkers and pre-clinical phases are still missing. We aimed to describe neurologic and ophthalmological findings observed in symptomatic and pre-symptomatic SCA7 subjects. Several neurologic scales, visual acuity, visual fields obtained by computer perimetry, and macular thickness in optical coherence tomography (mOCT) were measured in symptomatic carriers and at risk relatives. Molecular analysis of the ATXN7 was done blindly in individuals at risk. Thirteen symptomatic carriers, 3 pre-symptomatic subjects, and 5 related controls were enrolled. Symptomatic carriers presented scores significantly different from those of controls in most neurologic and ophthalmological scores. Gradual changes from controls to pre-symptomatic and then to symptomatic carriers were seen in mean (SD) of visual fields - 1.34 (1.15), - 2.81 (1.66). and - 9.56 (7.26); mOCT - 1.11 (2.6), - 3.48 (3.54), and - 7.73 (2.56) Z scores; and "Spinocerebellar Ataxia Functional Index (SCAFI)" - 1.16 (0.28), 0.65 (0.56), and - 0.61 (0.44), respectively. Visual fields and SCAFI were significantly correlated with time to disease onset (pre-symptomatic)/disease duration (symptomatic carriers). Visual fields, mOCT, and SCAFI stood out as candidates for state biomarkers for SCA7 since pre-symptomatic stages of disease.
脊髓小脑共济失调 7 型（SCA7）是一种多聚谷氨酰胺疾病，逐渐影响小脑、脑干和视网膜。SCA7 非常罕见，对生物标志物和临床前阶段的了解仍存在不足。我们旨在描述有症状和无症状 SCA7 受试者的神经和眼科发现。在有症状的携带者和有风险的亲属中测量了几种神经学量表、视力、计算机视野计获得的视野和光学相干断层扫描（mOCT）中的黄斑厚度。对有风险的个体进行了 ATXN7 的分子分析。共纳入 13 名有症状的携带者、3 名无症状的受试者和 5 名相关的对照者。在大多数神经学和眼科评分中，有症状的携带者的评分与对照组明显不同。从对照组到无症状前和随后到有症状的携带者，视野的平均值（标准差）逐渐变化为 -1.34（1.15）、-2.81（1.66）和 -9.56（7.26）；mOCT 的 Z 分数分别为 -1.11（2.6）、-3.48（3.54）和 -7.73（2.56）；“脊髓小脑共济失调功能指数（SCAFI）”分别为 -1.16（0.28）、0.65（0.56）和 -0.61（0.44）。视野和 SCAFI 与疾病发病前（无症状前）/疾病持续时间（有症状的携带者）显著相关。视野、mOCT 和 SCAFI 作为 SCA7 的候选状态生物标志物脱颖而出，因为它们处于疾病的无症状前阶段。
