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- James R Burrell, Glenda M Halliday, Jillian J Kril, Lars M Ittner, Jürgen Götz, Matthew C Kiernan, and John R Hodges.
- Neuroscience Research Australia, Sydney, NSW, Australia; Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.
- Lancet. 2016 Aug 27; 388 (10047): 919-31.
AbstractEarly reports of cognitive and behavioural deficits in motor neuron disease might have been overlooked initially, but the concept of a frontotemporal dementia-motor neuron disease continuum has emerged during the past decade. Frontotemporal dementia-motor neuron disease is now recognised as an important dementia syndrome, which presents substantial challenges for diagnosis and management. Frontotemporal dementia, motor neuron disease, and frontotemporal dementia-motor neuron disease are characterised by overlapping patterns of TAR DNA binding protein (TDP-43) pathology, while the chromosome 9 open reading frame 72 (C9orf72) repeat expansion is common across the disease spectrum. Indeed, the C9orf72 repeat expansion provides important clues to disease pathogenesis and suggests potential therapeutic targets. Variable diagnostic criteria identify motor, cognitive, and behavioural deficits, but further refinement is needed to define the clinical syndromes encountered in frontotemporal dementia-motor neuron disease. Copyright © 2016 Elsevier Ltd. All rights reserved.
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