Quantitative sensory testing and skin biopsy findings in late-onset ATTRv presymptomatic carriers: Relationships with predicted time of disease onset (PADO)

IF 3.9 3区医学 Q1 CLINICAL NEUROLOGY Journal of the Peripheral Nervous System Pub Date : 2023-08-03 DOI:10.1111/jns.12586

Luca Leonardi, Rocco Costanzo, Francesca Forcina, Stefania Morino, Giovanni Antonini, Marco Salvetti, Marco Luigetti, Angela Romano, Guido Primiano, Valeria Guglielmino, Laura Fionda, Matteo Garibaldi, Antonio Lauletta, Elena Rossini, Laura Tufano, Marco Ceccanti, Nicoletta Esposito, Pietro Falco, Giuseppe di Pietro, Andrea Truini, Eleonora Galosi

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引用次数: 2

Abstract

Hereditary transthyretin amyloidosis polyneuropathy (ATTRv‐PN) presymptomatic carriers often show preclinical abnormalities at small fiber‐related diagnostic tests. However, no validated biomarker is currently available to use for presymptomatic carriers' follow‐up, thus helping therapeutic decision making. Our study aimed at assessing nerve conduction study (NCS), quantitative sensory testing (QST), and skin biopsy parameters in a large cohort of late‐onset ATTRv presymptomatic carriers and to evaluate whether they correlated with predicted age of disease onset (PADO).

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迟发性atv症状前携带者的定量感觉测试和皮肤活检结果:与预测发病时间(PADO)的关系

遗传性甲状腺转蛋白淀粉样变性多神经病变(ATTRv-PN)症状前携带者在小纤维相关诊断试验中经常表现出临床前异常。然而，目前还没有经过验证的生物标志物可用于症状前携带者的随访，从而帮助治疗决策。本研究旨在评估一大批迟发性ATTRv症状前携带者的神经传导研究(NCS)、定量感觉测试(QST)和皮肤活检参数，并评估它们是否与预测发病年龄(PADO)相关。方法连续招募迟发性atv症状前携带者，进行NCS、QST和皮肤活检，并从远端和近端评估表皮内神经纤维密度(IENFD)。采用双神经病变-4 (DN4)和小纤维神经病变-症状量表(SFN-SIQ)评估疼痛和小纤维神经病变相关症状。估计每个携带者的PADO和到达PADO的时间(delta-PADO)，并分析与诊断测试措施的相关性。结果入选症状前ATTRv受试者40例。20名携带者(50%)远端IENFD减少，73%的病例具有非长度依赖性分布。11名受试者(27.5%)在QST有冷和/或热检测阈值(CDT和/或WDT)异常。δ - pado与腓肠感觉神经动作电位(SNAP)振幅正相关(r =。416, p = .004)，而CDT等QST参数的z值(r =。314, p = 0.028)， WDT (r =−。294, p = 0.034)，机械检测阈值(MDT;r =−。382, p = .012)。简单线性回归模型显示δ - pado与患者SAP、CDT、MDT呈线性关系。结论:我们的研究结果证实，在ATTRv症状前携带者中，IENFD减少和QST异常可能发生在早期，通常具有非长度依赖模式。然而，只有总体SAP振幅和QST参数与delta-PADO相关，提示连续联合QST和NCS评估可用于atv症状前携带者的随访。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of the Peripheral Nervous System 医学-临床神经学

CiteScore

6.10

自引率

7.90%

发文量

审稿时长

>12 weeks

期刊介绍： The Journal of the Peripheral Nervous System is the official journal of the Peripheral Nerve Society. Founded in 1996, it is the scientific journal of choice for clinicians, clinical scientists and basic neuroscientists interested in all aspects of biology and clinical research of peripheral nervous system disorders. The Journal of the Peripheral Nervous System is a peer-reviewed journal that publishes high quality articles on cell and molecular biology, genomics, neuropathic pain, clinical research, trials, and unique case reports on inherited and acquired peripheral neuropathies. Original articles are organized according to the topic in one of four specific areas: Mechanisms of Disease, Genetics, Clinical Research, and Clinical Trials. The journal also publishes regular review papers on hot topics and Special Issues on basic, clinical, or assembled research in the field of peripheral nervous system disorders. Authors interested in contributing a review-type article or a Special Issue should contact the Editorial Office to discuss the scope of the proposed article with the Editor-in-Chief.