4.6 Review

Biomarkers in Motor Neuron Disease: A State of the Art Review

Journal

FRONTIERS IN NEUROLOGY
Volume 10, Issue -, Pages -

Publisher

FRONTIERS MEDIA SA
DOI: 10.3389/fneur.2019.00291

Keywords

biomarker; motor neuron disease (MND); ALS (Amyotrophic lateral sclerosis); neuroimaging; cerebrospinal fluid (CSF); electrophysiology; biofluid

Funding

  1. Motor Neurone Disease Association (AMBROSIA Programme) [MND005348]
  2. British Society for Clinical Neurophysiology
  3. NIHR Sheffield Biomedical Research Centre: Translational Neuroscience for Chronic Neurological Disorders
  4. NIHR [NF-S1-0617-10077]
  5. NIHR Sheffield Clinical Research Facility
  6. MRC [MR/K000039/1, MR/S004920/1] Funding Source: UKRI

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Motor neuron disease can be viewed as an umbrella term describing a heterogeneous group of conditions, all of which are relentlessly progressive and ultimately fatal. The average life expectancy is 2 years, but with a broad range of months to decades. Biomarker research deepens disease understanding through exploration of pathophysiological mechanisms which, in turn, highlights targets for novel therapies. It also allows differentiation of the disease population into sub-groups, which serves two general purposes: (a) provides clinicians with information to better guide their patients in terms of disease progression, and (b) guides clinical trial design so that an intervention may be shown to be effective if population variation is controlled for. Biomarkers also have the potential to provide monitoring during clinical trials to ensure target engagement. This review highlights biomarkers that have emerged from the fields of systemic measurements including biochemistry (blood, cerebrospinal fluid, and urine analysis); imaging and electrophysiology, and gives examples of how a combinatorial approach may yield the best results. We emphasize the importance of systematic sample collection and analysis, and the need to correlate biomarker findings with detailed phenotype and genotype data.

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