ALSの疾患修飾薬時代の新しい診断基準—Gold Coast診断基準の有用性と留意点

Gold Coast Criteria: A New Diagnostic Paradigm in the Era of Disease-Modifying Therapy for Amyotrophic Lateral Sclerosis

筋萎縮性側索硬化症（amyotrophic lateral sclerosis：ALS）における疾患修飾薬の開発状況は目覚ましく，家族性ALSに対する核酸医薬tofersenの登場によりALS治療は転機を迎えた。早期診断・早期治療介入を効果的に進めるためには，診断基準の感度がより改善することが求められる。2020年に作られたGold Coast診断基準は上位運動ニューロン障害を欠く症例のALS診断を可能とした診断基準として活用が期待されているが，診断特異度を担保するために必要な運用上の留意点を概説する。

Abstract

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.