[黄金海岸标准:肌萎缩性脊髓侧索硬化症疾病调整疗法时代的新诊断范式]。

Q3 Medicine Brain and Nerve Pub Date : 2024-11-01 DOI:10.11477/mf.1416202763
Isamu Yamakawa, Makoto Urushitani
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引用次数: 0

摘要

肌萎缩性脊髓侧索硬化症(ALS)疾病修饰药物的研发取得了重大进展,其中用于治疗家族性肌萎缩性脊髓侧索硬化症的反义寡核苷酸药物托福森的问世标志着治疗的转折点。这些药物在病程早期使用效果最佳,这也凸显了提高诊断灵敏度的必要性。2020 年黄金海岸诊断标准允许对无上运动神经元症状的病例进行 ALS 诊断,从而有可能提高早期发现率。然而,在应用这些标准时,有必要进行仔细的鉴别诊断,以保持诊断的特异性。本综述概述了使用黄金海岸标准时应考虑的要点,在早期诊断与谨慎避免过度诊断之间取得平衡。
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[Gold Coast Criteria: A New Diagnostic Paradigm in the Era of Disease-Modifying Therapy for Amyotrophic Lateral Sclerosis].

Significant progress has been made in the development of disease-modifying drugs for amyotrophic lateral sclerosis (ALS), with the introduction of tofersen, an antisense oligonucleotide drug for familial ALS, marking a turning point in the treatment. These drugs are most effective when administered early in the disease course, highlighting the need for improved diagnostic sensitivity. The 2020 Gold Coast Diagnostic Criteria allow ALS diagnosis in cases without upper motor neuron symptoms, potentially increasing early detection rates. However, careful differential diagnoses are necessary when applying these criteria to maintain diagnostic specificity. This review outlines the key points to consider when using the Gold Coast Criteria, balancing the need for an early diagnosis with caution to avoid overdiagnosis.

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Brain and Nerve
Brain and Nerve Medicine-Neurology (clinical)
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