The presymptomatic phase of amyotrophic lateral sclerosis: are we merely scratching the surface?

Autor: Chipika RH; Computational Neuroimaging Group (CNG), Biomedical Sciences Institute, Trinity College Dublin, Pearse Street, Dublin, Ireland., Siah WF; Computational Neuroimaging Group (CNG), Biomedical Sciences Institute, Trinity College Dublin, Pearse Street, Dublin, Ireland., McKenna MC; Computational Neuroimaging Group (CNG), Biomedical Sciences Institute, Trinity College Dublin, Pearse Street, Dublin, Ireland., Li Hi Shing S; Computational Neuroimaging Group (CNG), Biomedical Sciences Institute, Trinity College Dublin, Pearse Street, Dublin, Ireland., Hardiman O; Computational Neuroimaging Group (CNG), Biomedical Sciences Institute, Trinity College Dublin, Pearse Street, Dublin, Ireland., Bede P; Computational Neuroimaging Group (CNG), Biomedical Sciences Institute, Trinity College Dublin, Pearse Street, Dublin, Ireland. bedep@tcd.ie.
Jazyk: angličtina
Zdroj: Journal of neurology [J Neurol] 2021 Dec; Vol. 268 (12), pp. 4607-4629. Date of Electronic Publication: 2020 Oct 31.
DOI: 10.1007/s00415-020-10289-5
Abstrakt: 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.
(© 2020. Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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