TY - JOUR T1 - Motor neuron disease: biomarker development for an expanding cerebral syndrome JF - Clinical Medicine JO - Clin Med SP - s60 LP - s65 DO - 10.7861/clinmedicine.16-6-s60 VL - 16 IS - Suppl 6 AU - Martin R Turner Y1 - 2016/12/01 UR - http://www.rcpjournals.org/content/16/Suppl_6/s60.abstract N2 - Descriptions 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. ER -