Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis

被引：266

作者：

Goutman, Stephen A. ^{[1
]}

Hardiman, Orla ^{[2
]}

Al-Chalabi, Ammar ^{[3
,4
]}

Chio, Adriano ^{[5
]}

Savelieff, Masha G. ^{[1
]}

Kiernan, Matthew C. ^{[6
,7
]}

Feldman, Eva L. ^{[1
]}

机构：

[1] Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA

[2] Trinity Coll Dublin, Acad Unit Neurol, Trinity Biomed Sci Inst, Dublin, Ireland

[3] Kings Coll London, Maurice Wohl Clin Neurosci Inst, Dept Basic & Clin Neurosci, London, England

[4] Kings Coll London, Dept Neurol, London, England

[5] Univ Turin, Rita Levi Montalcini Dept Neurosci, Turin, Italy

[6] Univ Sydney, Brain & Mind Ctr, Sydney, NSW, Australia

[7] Royal Prince Alfred Hosp, Dept Neurol, Sydney, NSW, Australia

来源：

LANCET NEUROLOGY | 2022年 / 21卷 / 05期

基金：

欧盟地平线“2020”; 英国医学研究理事会; 英国经济与社会研究理事会; 爱尔兰科学基金会;

关键词：

ALSFRS-R; STAGING SYSTEM; VALIDATION; MRI; NEUROFILAMENTS; CONNECTOME; PREVALENCE; PREDICTION; CRITERIA; POINT;

D O I：

10.1016/S1474-4422(21)00465-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The diagnosis of amyotrophic lateral sclerosis can be challenging due to its heterogeneity in clinical presentation and overlap with other neurological disorders. Diagnosis early in the disease course can improve outcomes as timely interventions can slow disease progression. An evolving awareness of disease genotypes and phenotypes and new diagnostic criteria, such as the recent Gold Coast criteria, could expedite diagnosis. Improved prognosis, such as that achieved with the survival model from the European Network for the Cure of ALS, could inform the patient and their family about disease course and improve end-of-life planning. Novel staging and scoring systems can help monitor disease progression and might potentially serve as clinical trial outcomes. Lastly, new tools, such as fluid biomarkers, imaging modalities, and neuromuscular electrophysiological measurements, might increase diagnostic and prognostic accuracy.

引用

页码：480 / 493

页数：14

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