Benatar, Michael;
Wuu, Joanne;
Huey, Edward D;
McMillan, Corey T;
Petersen, Ronald C;
Postuma, Ronald;
McHutchison, Caroline;
... Attendees of the Second International Pre-Symptomatic ALS Worksh; + view all
(2024)
The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology.
Nature Reviews Neurology
, 20
(6)
pp. 364-376.
10.1038/s41582-024-00961-z.
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Abstract
Increasing appreciation of the phenotypic and biological overlap between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, alongside evolving biomarker evidence for a pre-symptomatic stage of disease and observations that this stage of disease might not always be clinically silent, is challenging traditional views of these disorders. These advances have highlighted the need to adapt ingrained notions of these clinical syndromes to include both the full phenotypic continuum - from clinically silent, to prodromal, to clinically manifest - and the expanded phenotypic spectrum that includes ALS, frontotemporal dementia and some movement disorders. The updated clinical paradigms should also align with our understanding of the biology of these disorders, reflected in measurable biomarkers. The Miami Framework, emerging from discussions at the Second International Pre-Symptomatic ALS Workshop in Miami (February 2023; a full list of attendees and their affiliations appears in the Supplementary Information) proposes a classification system built on: first, three parallel phenotypic axes - motor neuron, frontotemporal and extrapyramidal - rather than the unitary approach of combining all phenotypic elements into a single clinical entity; and second, biomarkers that reflect different aspects of the underlying pathology and biology of neurodegeneration. This framework decouples clinical syndromes from biomarker evidence of disease and builds on experiences from other neurodegenerative diseases to offer a unified approach to specifying the pleiotropic clinical manifestations of disease and describing the trajectory of emergent biomarkers.
| Type: | Article |
|---|---|
| Title: | The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41582-024-00961-z |
| Publisher version: | https://doi.org/10.1038/s41582-024-00961-z |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, NEUROFILAMENT LIGHT-CHAIN, AMYOTROPHIC-LATERAL-SCLEROSIS, PROGRESSIVE SUPRANUCLEAR PALSY, FRONTOTEMPORAL DEMENTIA, BEHAVIORAL VARIANT, EXECUTIVE DYSFUNCTION, DISEASE PROGRESSION, MOVEMENT-DISORDERS, DIAGNOSIS, CRITERIA |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10213410 |
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