Department of Human Neuroscience, Sapienza University, Rome, Italy.
Department of Medico-Surgical Sciences and Biotechnologies, University of Rome Sapienza, Latina, Italy.
Clin Neurophysiol. 2024 Mar;159:75-80. doi: 10.1016/j.clinph.2024.01.004. Epub 2024 Feb 2.
In Friedreich's ataxia research, the focus is on discovering treatments and biomarkers to assess disease severity and treatment effects. Our study examines high-resolution nerve ultrasound in these patients, seeking correlations with established clinical markers of disease severity.
Ten patients with Friedreich's Ataxia underwent a comprehensive clinical assessment with established scales (SARA, FARS, mFARS, INCAT, ADL 0-36, IADL). Additionally, they underwent nerve conduction studies and high-resolution nerve ultrasound. Quantitative evaluation of nerve cross-sectional area, conducted at 24 nerve sites using high-resolution nerve ultrasound, was compared with data obtained from 20 healthy volunteers.
All the patients had a severe sensory axonal neuropathy. High-resolution nerve ultrasound showed significant increase, in cross sectional area, of median and ulnar nerves at the axilla and arm. The cumulative count of affected nerve sites was directly associated with clinical disability, as determined by SARA, FARS, mFARS, ADL 0-36, and INCAT score, while displaying an inverse correlation with IADL.
Our study shows that high-resolution ultrasound reveals notable nerve abnormalities, primarily in the upper limbs of patients diagnosed with Friedreich's Ataxia. The observed correlation between these nerve abnormalities and clinical disability scales indicates the potential use of this technique as a biomarker for evaluating disease severity and treatment effects.
Nerve Ultrasound is a potential biomarker of disease severity in Friedreich's Ataxia.
在弗里德里希共济失调症的研究中，重点在于发现治疗方法和生物标志物，以评估疾病严重程度和治疗效果。我们的研究检查了这些患者的高分辨率神经超声，旨在寻找与疾病严重程度的既定临床标志物的相关性。
10 名弗里德里希共济失调症患者接受了全面的临床评估，使用了既定的量表（SARA、FARS、mFARS、INCAT、ADL 0-36、IADL）。此外，他们还接受了神经传导研究和高分辨率神经超声检查。使用高分辨率神经超声在 24 个神经部位对神经横截面积进行定量评估，并与 20 名健康志愿者的数据进行比较。
所有患者均存在严重的感觉轴索性神经病。高分辨率神经超声显示，腋部和臂部正中神经和尺神经的横截面积显著增加。受累神经部位的累积计数与 SARA、FARS、mFARS、ADL 0-36 和 INCAT 评分所确定的临床残疾直接相关，与 IADL 呈负相关。
我们的研究表明，高分辨率超声显示出明显的神经异常，主要发生在诊断为弗里德里希共济失调症的患者的上肢。观察到的这些神经异常与临床残疾量表之间的相关性表明，该技术可能作为评估疾病严重程度和治疗效果的生物标志物。
神经超声是弗里德里希共济失调症疾病严重程度的潜在生物标志物。
