The presymptomatic phase of amyotrophic lateral sclerosis: are we merely scratching the surface?
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REVIEW
The presymptomatic phase of amyotrophic lateral sclerosis: are we merely scratching the surface? Rangariroyashe H. Chipika1 · We Fong Siah1 · Mary Clare McKenna1 · Stacey Li Hi Shing1 · Orla Hardiman1 · Peter Bede1 Received: 20 August 2020 / Revised: 18 October 2020 / Accepted: 20 October 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Presymptomatic studies in ALS have consistently captured considerable disease burden long before symptom manifestation and contributed important academic insights. With the emergence of genotype-specific therapies, however, there is a pressing need to address practical objectives such as the estimation of age of symptom onset, phenotypic prediction, informing the optimal timing of pharmacological intervention, and identifying a core panel of biomarkers which may detect response to therapy. Existing presymptomatic studies in ALS have adopted striking different study designs, relied on a variety of control groups, used divergent imaging and electrophysiology methods, and focused on different genotypes and demographic groups. We have performed a systematic review of existing presymptomatic studies in ALS to identify common themes, stereotyped shortcomings, and key learning points for future studies. Existing presymptomatic studies in ALS often suffer from sample size limitations, lack of disease controls and rarely follow their cohort until symptom manifestation. As the characterisation of presymptomatic processes in ALS serves a multitude of academic and clinical purposes, the careful review of existing studies offers important lessons for future initiatives. Keywords Amyotrophic lateral sclerosis · Frontotemporal degeneration · Presymptomatic · Neuroimaging Abbreviations ACE-R Addenbrooke’s Cognitive Examination-Revised AD Alzheimer’s disease AD Axial diffusivity ALLFTD ARTFL–LEFFTDS Longitudinal Frontotemporal Lobar Degeneration ALS Amyotrophic lateral sclerosis ALSFRS-R Amyotrophic Lateral Sclerosis Functional Rating Scale-revised ANG Angiogenin APEX1 Apurinic/apyrimidinic endodeoxyribonuclease 1 APOE4 Apolipoprotein E4 APP Amyloid precursor protein ASCA Amnestic Comparative Self-Assessment * Peter Bede [email protected] 1
Computational Neuroimaging Group (CNG), Biomedical Sciences Institute, Trinity College Dublin, Pearse Street, Dublin, Ireland
ASO Antisense oligonucleotide AUC Area under the receiver operator characteristic curve AVLT Auditory verbal learning test BADL Basic activities of daily living BDI Beck Depression Inventory BNT Boston naming test bvFTD Behavioural variant FTD CBD Corticobasal degeneration C-CFT C-Labeled 2-β-carbomethoxy-3-β-(4fluorophenyl)tropane C-CFT C-Labeled 2-β-carbomethoxy-3-β-(4fluorophenyl)tropane C-PiB C-Pittsburgh compound B C9orf72 Chromosome 9 open reading frame 72 CAPG Macrophage-capping protein CBF Cerebral blood flow CBI-R Cambridge Behavioural Inventory revised CDR Clinical Dementia Rating Scale CDR-SUM Clinical Dementia Rating sum of box score CHI3L1 Chitinase 3-like prot
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