<br>SCA3/MJD 共济失调前携带者 MRI 变化的纵向进展,Journal of Neurology

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SCA3/MJD 共济失调前携带者 MRI 变化的纵向进展
Journal of Neurology ( IF 4.8 ) Pub Date : 2023-05-16 , DOI: 10.1007/s00415-023-11763-6
Camila Maria de Oliveira _{1,

2} , Vanessa Bielefeldt Leotti _{3,

4} , Sandra Polita ₅ , Mauricio Anes ₆ , Amanda Henz Cappelli ₇ , Anastacia Guimarães Rocha ₇ , Gabriela Ecco ₇ , Gabriela Bolzan _{2,

8} , Nathalia Kersting _{1,

2} , Juliana Avila Duarte _{1,

5,

7} , Maria-Luiza Saraiva-Pereira _{2,

8,

9,

10} , Marcondes Cavalcante França Junior _{11,

12} , Thiago Junqueira Ribeiro Rezende _{11,

12,

13} , Laura Bannach Jardim _{1,

2,

7,

8,

9,

13,

14}

Affiliation

Programa de Pós-Graduação em Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Departamento de Estatística, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Programa de Pós-Graduação em Epidemiologia, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Serviço de Radiologia, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Serviço de Física Médica e Radioproteção, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Departamento de Neurologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil.
Neuroimaging Laboratory, Rua Vital Brasil, 89-99, Cidade Universitária "Zeferino Vaz", Campinas, SP, 13083-888, Brazil.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, 90035-003, Brazil.
Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

背景

脊髓小脑共济失调 3 型/马查多-约瑟夫病 (SCA3/MJD) 共济失调前期的磁共振成像 (MRI) 自然史尚不清楚。我们报告此阶段获得的横截面和纵向数据。

方法

基线（后续）观察包括 32 (17) 个共济失调前携带者 (SARA < 3) 和 20 (12) 个相关对照。突变长度用于估计步态共济失调的发作时间 (TimeTo)。临床量表和 MRI 在基线和中位 (IQR) 30 (7) 个月后进行。评估了小脑容量 (ACAPULCO)、深部灰质 (T1-Multiatlas)、皮质厚度 (FreeSurfer)、颈脊髓面积 (SCT) 和白质 (DTI-Multiatlas)。描述了各组之间的基线差异；使用 TimeTo 和研究时间纵向评估 Bonferroni 校正后呈现p < 0.1 的变量。对于 TimeTo 策略，年龄、性别和颅内容量的校正是通过Z分数进展进行的。采用 5% 的显着性水平。

结果

C1水平的SCT可将共济失调前的携带者与对照区分开来。右小脑下脚 (ICP)、双侧小脑中脚 (MCP) 和双侧内侧丘系 (ML) 的 DTI 测量也将共济失调前携带者与对照区分开来，并且随着 TimeTo 的进展，效应大小从 0.11 到 0.20 不等，比临床量表大。没有 MRI 变量显示随研究时间的进展。

讨论

右ICP、左MCP和右ML的DTI参数是SCA3/MJD共济失调前期的最佳生物标志物。 TimeTo 是一个有趣的时间尺度，因为它捕捉到了这些结构的纵向恶化。

"点击查看英文标题和摘要"

The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD

Background

The natural history of magnetic resonance imaging (MRI) in pre-ataxic stages of spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is not well known. We report cross-sectional and longitudinal data obtained at this stage.

Methods

Baseline (follow-up) observations included 32 (17) pre-ataxic carriers (SARA < 3) and 20 (12) related controls. The mutation length was used to estimate the time to onset (TimeTo) of gait ataxia. Clinical scales and MRIs were performed at baseline and after a median (IQR) of 30 (7) months. Cerebellar volumetries (ACAPULCO), deep gray-matter (T1-Multiatlas), cortical thickness (FreeSurfer), cervical spinal cord area (SCT) and white matter (DTI-Multiatlas) were assessed. Baseline differences between groups were described; variables that presented a p < 0.1 after Bonferroni correction were assessed longitudinally, using TimeTo and study time. For TimeTo strategy, corrections for age, sex and intracranial volume were done with Z-score progression. A significance level of 5% was adopted.

Results

SCT at C1 level distinguished pre-ataxic carriers from controls. DTI measures of the right inferior cerebellar peduncle (ICP), bilateral middle cerebellar peduncles (MCP) and bilateral medial lemniscus (ML), also distinguished pre-ataxic carriers from controls, and progressed over TimeTo, with effect sizes varying from 0.11 to 0.20, larger than those of the clinical scales. No MRI variable showed progression over study time.

Discussion

DTI parameters of the right ICP, left MCP and right ML were the best biomarkers for the pre-ataxic stage of SCA3/MJD. TimeTo is an interesting timescale, since it captured the longitudinal worsening of these structures.

更新日期：2023-05-16

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