RT Journal Article
SR Electronic
T1 Motor neuron disease: biomarker development for an expanding cerebral syndrome
JF Clinical Medicine
JO Clin Med
FD Royal College of Physicians
SP s60
OP s65
DO 10.7861/clinmedicine.16-6-s60
VO 16
IS Suppl 6
A1 Martin R Turner
YR 2016
UL http://www.rcpjournals.org/content/16/Suppl_6/s60.abstract
AB 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.