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Motor neurone disease: progress and challenges

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Motor neurone disease (MND) is a progressive, neurodegenerative disorder that mainly attacks the human motor system, leading to significant disability and ultimately death, usually within 3 years.1 The incidence of MND in Western populations, including Australia, is about 2–3 per 100 000, with a national prevalence of about 8 per 100 000.2 Currently, 1500 Australian patients suffer from the disease.3 As there remains no test for MND, diagnosis is based on clinical findings, supported by investigations such as neurophysiological testing and structural imaging to exclude mimic disorders.4 Given that MND is clinically and pathologically heterogeneous, therapeutic and neuroprotective targets have been difficult to identify. However, progress in recent years has stimulated innovative research into this devastating disorder. In this review, we discuss areas of progress in the field of MND, including improved understanding of the various clinical phenotypes, the development of standards of care, the continuum with frontotemporal dementia (FTD), the role of genetics, and the global clinical trials pipeline. We also highlight the importance of translating research into clinical practice through various networks.

To formulate an evidence-based review of MND in clinical practice, we searched PubMed for original and review…