• Martin R Turner.
• Medical Research Council senior clinical fellow, Nuffield Department of Clinical Neurosciences, University of Oxford, UK martin.turner@ndcn.ox.ac.uk.
• Clin Med (Lond). 2016 Dec 1; 16 (Suppl 6): s60s65s60-s65.

AbstractDescriptions of motor neuron disease (MND) documented more than a century ago remain instantly recognisable to the physician. The muscle weakness, typically with signs of upper and lower motor neuron dysfunction, is uniquely relentless. Over the last 30 years, a wider cerebral pathology has emerged, despite the lack of overt cognitive impairment in the majority of patients. From the initial linkage of a small number of cases to mutations in SOD1, diverse cellular pathways have been implicated in pathogenesis. An increasingly complex clinical heterogeneity has emerged around a significant variability in survival. Defining a cellular signature of aggregated TDP-43 common to nearly all MND and a large proportion of frontotemporal dementia (FTD), has placed MND alongside more traditional cerebral neurodegeneration. With new genetic causes, most notably a hexanucleotide expansion in C9orf72 associated with both MND and FTD, the development of biomarkers against which to test therapeutic candidates is a priority.© Royal College of Physicians 2016. All rights reserved.

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