The literature search was aimed at finding papers relevant to this Seminar dating back to 2000. Medline and Embase were used as the basis of this search. Papers relating to amyotrophic lateral sclerosis were sought with the terms: āALSā, āMNDā, āamyotrophic lateral sclerosisā, āmotor neuron(e) diseaseā, and āmotorneuron diseaseā. Papers on motor neuron disease identified with this strategy were further selected for relevance by seeking those containing the following terms: āepidemiologyā,
SeminarAmyotrophic lateral sclerosis
Section snippets
Natural history
Amyotrophic lateral sclerosis is one of the major neurodegenerative diseases alongside Alzheimer's disease and Parkinson's disease. It is a progressive disorder that involves degeneration of the motor system at all levels. Involvement of other elements of the nervous system has been described, particularly at post mortem, but motor-system involvement is most important in relation to clinical features noted during life. Overlap with other neurodegenerative diseases is sometimes seen; some
Diagnostic criteria, clinical rating scales, and quality-of-life measurement
The El Escorial diagnostic criteria for amyotrophic lateral sclerosis were developed in the late 1980s16 and have subsequently been revised.17 Panel 1 shows the essential features of the revised criteria. Although intended as an aid to research and slightly more restrictive than the burden of proof usually applied in clinical practice, these criteria do provide a structured approach to assessment of people suspected of having amyotrophic lateral sclerosis, which can enhance objectivity in
Causal and pathogenetic hypotheses
Many causal and pathogenetic hypotheses for amyotrophic lateral sclerosis have been proposed over the years, ranging from heavy-metal toxic effects27 to environmental and occupational exposures.28 Despite extensive research, the disorder remains poorly understood in terms of a unifying causal hypothesis and, indeed, might turn out to be a common end-stage phenotype of diverse causes. Current work focuses largely on excitotoxicity and oxidant stress. Viral hypotheses drawing from the role of
Disease-modifying treatments
Many putative disease-modifying strategies for amyotrophic lateral sclerosis have been tested in clinical trials (table 2),29, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59 but only one drug (riluzole) has so far been licensed. One of the actions of riluzole is as a glutamate-release inhibitor acting on sodium channels.60 In this context, riluzole has similar pharmacological properties to lamotrigine. It prolongs the lifespan of patients with amyotrophic lateral sclerosis
Diagnostic markers and markers of disease progression
Although there is still no strongly effective disease-modifying treatment for amyotrophic lateral sclerosis, the flow of potential drugs continues. Thus, a methodology that permits rapid testing of new potential treatments, including markers of disease progression, is needed. Spirometry is an important measure that can be used to assess rate of progression in clinical trials of amyotrophic lateral sclerosis, but the reliability of this test is uncertain particularly in patients with prominent
The way forward
Because of the shortage of satisfactory disease-modifying treatments, early diagnosis of amyotrophic lateral sclerosis has traditionally not been imperative. It will, however, be increasingly important for any attempts to develop more effective treatments. Encouragingly, findings of high-throughput technologies have shown potential proteomic and metabolic targets that might be used as disease-specific biomarkers. Such indicators could provide opportunities for early diagnosis and surrogate
Search strategy and selection criteria
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The role of calcium-binding proteins in selective motoneuron vulnerability in amyotrophic lateral sclerosis
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