将皮肤 Tau 定量作为亨廷顿氏病的新型生物标记物

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY Movement Disorders Pub Date : 2024-08-28 DOI:10.1002/mds.29989

Iñigo Ruiz-Barrio MD, Anna Vázquez-Oliver PhD, Arnau Puig-Davi MSc, Elisa Rivas-Asensio BSc, Jesus Perez-Perez MD, Cristina Fernandez-Vizuete BSc, Andrea Horta-Barba PhD, Gonzalo Olmedo-Saura MD, Nil Salvat-Rovira BSc, Frederic Sampedro MD, PhD, Elena Vacchi PhD, Giorgia Melli MD, PhD, Javier Pagonabarraga MD, PhD, Jaime Kulisevsky MD, PhD, Saul Martinez-Horta PhD

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引用次数: 0

摘要

背景：新的研究表明，tau 蛋白失调与亨廷顿氏病的病理生理学有关：本研究调查了作为亨廷顿氏病潜在生物标记物的皮肤 tau 定量及其与疾病负担结果的相关性：在这项横断面研究中，我们使用酶联免疫吸附测定法测量了23名亨廷顿氏病突变携带者和8名对照组受试者的皮肤tau水平，并检查了组别区分、与遗传标记物的相关性、临床评估和神经影像学数据。脑萎缩通过脑分割的体积测量和基于体素的形态测量方法进行量化：结果：我们的研究结果表明，与发病前和健康对照组相比，显性亨廷顿氏病患者的皮肤tau水平升高。这些水平与CAG重复长度、CAG-年龄-产物得分、亨廷顿综合评定量表运动总分、认知评估以及与疾病相关的皮质和皮质下容积相关，且与年龄和性别无关。在聚类分析中使用皮肤tau水平以及遗传和临床指标可改善受试者分层，提高聚类的区分度和有效性：这项研究不仅证实了亨廷顿氏病皮肤tau定量分析的可行性，还确定了皮肤tau作为生物标志物的潜力，可用于加强亨廷顿氏病的群体分类和评估疾病严重程度，为生物标志物研究开辟了新的方向。© 2024 国际帕金森和运动障碍协会。

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Skin Tau Quantification as a Novel Biomarker in Huntington's Disease

Background

Emerging research implicates tau protein dysregulation in the pathophysiology of Huntington's disease.

Objective

This study investigated skin tau quantification as a potential biomarker for Huntington's disease and its correlation with disease burden outcomes.

Methods

In this cross-sectional study, we measured skin tau levels using enzyme-linked immunosorbent assay in 23 Huntington's disease mutations carriers and eight control subjects, examining group discrimination, correlations with genetic markers, clinical assessments, and neuroimaging data. Brain atrophy was quantified by both volumetric measurements from brain segmentation and a voxel-based morphometry approach.

Results

Our findings showed elevated skin tau levels in manifest Huntington's disease compared with premanifest and healthy controls. These levels correlated with CAG repeat length, CAG-Age-Product score, composite Unified Huntington's Disease Rating Scale Total Motor Score, cognitive assessments, and disease-related cortical and subcortical volumes, all independent of age and gender. Using skin tau levels in cluster analysis along with genetic and clinical measures led to improved subject stratification, providing enhanced distinction and validity of clusters.

Conclusions

This study not only confirms the feasibility of skin tau quantification in Huntington's disease but also establishes its potential as a biomarker for enhancing group classification and assessing disease severity across the Huntington's disease spectrum, opening new directions in biomarker research. © 2024 International Parkinson and Movement Disorder Society.

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来源期刊

Movement Disorders 医学-临床神经学

CiteScore

13.30

自引率

8.10%

发文量

371

审稿时长

12 months

期刊介绍： Movement Disorders publishes a variety of content types including Reviews, Viewpoints, Full Length Articles, Historical Reports, Brief Reports, and Letters. The journal considers original manuscripts on topics related to the diagnosis, therapeutics, pharmacology, biochemistry, physiology, etiology, genetics, and epidemiology of movement disorders. Appropriate topics include Parkinsonism, Chorea, Tremors, Dystonia, Myoclonus, Tics, Tardive Dyskinesia, Spasticity, and Ataxia.