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Sökning: onr:"swepub:oai:DiVA.org:umu-203056" > Preventing amyotrop...

  • Benatar, MichaelDepartment of Neurology, University of Miami, FL, Miami, United States (författare)

Preventing amyotrophic lateral sclerosis : insights from pre-symptomatic neurodegenerative diseases

  • Artikel/kapitelEngelska2022

Förlag, utgivningsår, omfång ...

  • 2021-10-22
  • Oxford University Press,2022
  • electronicrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:umu-203056
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-203056URI
  • https://doi.org/10.1093/brain/awab404DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:for swepub-publicationtype

Anmärkningar

  • Significant progress has been made in understanding the pre-symptomatic phase of amyotrophic lateral sclerosis. While much is still unknown, advances in other neurodegenerative diseases offer valuable insights. Indeed, it is increasingly clear that the well-recognized clinical syndromes of Alzheimer's disease, Parkinson's disease, Huntington's disease, spinal muscular atrophy and frontotemporal dementia are also each preceded by a pre-symptomatic or prodromal period of varying duration, during which the underlying disease process unfolds, with associated compensatory changes and loss of inherent system redundancy. Key insights from these diseases highlight opportunities for discovery in amyotrophic lateral sclerosis. The development of biomarkers reflecting amyloid and tau has led to a shift in defining Alzheimer's disease based on inferred underlying histopathology. Parkinson's disease is unique among neurodegenerative diseases in the number and diversity of non-genetic biomarkers of pre-symptomatic disease, most notably REM sleep behaviour disorder. Huntington's disease benefits from an ability to predict the likely timing of clinically manifest disease based on age and CAG-repeat length alongside reliable neuroimaging markers of atrophy. Spinal muscular atrophy clinical trials have highlighted the transformational value of early therapeutic intervention, and studies in frontotemporal dementia illustrate the differential role of biomarkers based on genotype. Similar advances in amyotrophic lateral sclerosis would transform our understanding of key events in pathogenesis, thereby dramatically accelerating progress towards disease prevention. Deciphering the biology of pre-symptomatic amyotrophic lateral sclerosis relies on a clear conceptual framework for defining the earliest stages of disease. Clinically manifest amyotrophic lateral sclerosis may emerge abruptly, especially among those who harbour genetic mutations associated with rapidly progressive amyotrophic lateral sclerosis. However, the disease may also evolve more gradually, revealing a prodromal period of mild motor impairment preceding phenoconversion to clinically manifest disease. Similarly, cognitive and behavioural impairment, when present, may emerge gradually, evolving through a prodromal period of mild cognitive impairment or mild behavioural impairment before progression to amyotrophic lateral sclerosis. Biomarkers are critically important to studying pre-symptomatic amyotrophic lateral sclerosis and essential to efforts to intervene therapeutically before clinically manifest disease emerges. The use of non-genetic biomarkers, however, presents challenges related to counselling, informed consent, communication of results and limited protections afforded by existing legislation. Experiences from pre-symptomatic genetic testing and counselling, and the legal protections against discrimination based on genetic data, may serve as a guide. Building on what we have learned - more broadly from other pre-symptomatic neurodegenerative diseases and specifically from amyotrophic lateral sclerosis gene mutation carriers - we present a road map to early intervention, and perhaps even disease prevention, for all forms of amyotrophic lateral sclerosis.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Wuu, JoanneDepartment of Neurology, University of Miami, FL, Miami, United States (författare)
  • McHutchison, CarolineHuman Cognitive Neuroscience, Department of Psychology, University of Edinburgh, Edinburgh, United Kingdom; Euan MacDonald Centre for Mnd Research, University of Edinburgh, Edinburgh, United Kingdom (författare)
  • Postuma, Ronald BDepartment of Neurology, Montreal Neurological Institute, McGill University, Montreal, Canada (författare)
  • Boeve, Bradley FDepartment of Neurology, Mayo Clinic, MN, Rochester, United States (författare)
  • Petersen, RonaldDepartment of Neurology, Mayo Clinic, MN, Rochester, United States (författare)
  • Ross, Christopher ADivision of Neurobiology, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, School of Medicine, MD, Baltimore, United States; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University, School of Medicine, MD, Baltimore, United States; Department of Pharmacology and Molecular Sciences, Johns Hopkins University, School of Medicine, MD, Baltimore, United States; Department of Neurology, Johns Hopkins University, School of Medicine, MD, Baltimore, United States (författare)
  • Rosen, HowardDepartment of Neurology, University of California San Francisco, CA, United States (författare)
  • Arias, Jalayne JDepartment of Neurology, University of California San Francisco, CA, United States (författare)
  • Fradette, StephanieBiogen, MA, Cambridge, United States (författare)
  • McDermott, Michael PDepartment of Biostatistics and Computational Biology, University of Rochester, School of Medicine and Dentistry, NY, Rochester, United States; Department of Neurology, University of Rochester, School of Medicine and Dentistry, NY, Rochester, United States (författare)
  • Shefner, JeremyDepartment of Neurology, Barrow Neurological Institute, AZ, Phoenix, United States (författare)
  • Stanislaw, ChristineDepartment of Human Genetics, Emory University, GA, Atlanta, United States (författare)
  • Abrahams, SharonHuman Cognitive Neuroscience, Department of Psychology, University of Edinburgh, Edinburgh, United Kingdom; Euan MacDonald Centre for Mnd Research, University of Edinburgh, Edinburgh, United Kingdom (författare)
  • Cosentino, StephanieDepartment of Psychiatry, Columbia University, NY, New York, United States (författare)
  • Andersen, Peter M.,1962-Umeå universitet,Neurovetenskaper(Swepub:umu)pean0001 (författare)
  • Finkel, Richard SDepartment of Pediatric Medicine, Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, TN, Memphis, United States (författare)
  • Granit, VolkanDepartment of Neurology, University of Miami, FL, Miami, United States (författare)
  • Grignon, Anne-LaureDepartment of Neurology, University of Miami, FL, Miami, United States (författare)
  • Rohrer, Jonathan DDepartment of Neurodegenerative Disease, Dementia Research Centre, Ucl Institute of Neurology, Queen Square, London, United Kingdom (författare)
  • McMillan, Corey TDepartment of Neurology, University of Pennsylvania Perelman, School of Medicine, PA, Philadelphia, United States (författare)
  • Grossman, MurrayDepartment of Neurology, University of Pennsylvania Perelman, School of Medicine, PA, Philadelphia, United States (författare)
  • Al-Chalabi, AmmarDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom; Department of Neurology, King's College Hospital, London, United Kingdom (författare)
  • Turner, Martin RNuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom (författare)
  • Department of Neurology, University of Miami, FL, Miami, United StatesHuman Cognitive Neuroscience, Department of Psychology, University of Edinburgh, Edinburgh, United Kingdom; Euan MacDonald Centre for Mnd Research, University of Edinburgh, Edinburgh, United Kingdom (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Brain: Oxford University Press145:1, s. 27-440006-89501460-2156

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  • Brain (Sök värdpublikationen i LIBRIS)

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