title: The frontotemporal dementia-motor neuron disease continuum.
abstract: Early 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.
authors.affiliation: Neuroscience Research Australia, Sydney, NSW, Australia; Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.
authors.forename: James R
authors.initials: JR
authors.lastname: Burrell
authors.affiliation: Neuroscience Research Australia, Sydney, NSW, Australia; Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.
authors.forename: Glenda M
authors.initials: GM
authors.lastname: Halliday
authors.affiliation: Disciplines of Medicine and Pathology, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
authors.forename: Jillian J
authors.initials: JJ
authors.lastname: Kril
authors.affiliation: Neuroscience Research Australia, Sydney, NSW, Australia; Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.
authors.forename: Lars M
authors.initials: LM
authors.lastname: Ittner
authors.affiliation: Clem Jones Centre for Ageing Dementia Research, Queensland Brain Institute, University of Queensland, Brisbane, QLD, Australia.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Götz
authors.affiliation: Neuroscience Research Australia, Sydney, NSW, Australia; Brain and Mind Centre, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Kiernan
authors.affiliation: Neuroscience Research Australia, Sydney, NSW, Australia; Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia. Electronic address: j.hodges@neura.edu.au.
authors.forename: John R
authors.initials: JR
authors.lastname: Hodges
mesh_terms: D000203:Activities of Daily Living; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D000073885:C9orf72 Protein; D003071:Cognition; D019175:DNA Methylation; D042622:DNA Repeat Expansion; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D056344:Executive Function; D057180:Frontotemporal Dementia / Q000235:genetics / Q000473:pathology / Q000523:psychology / Q000628:therapy; D006801:Humans; D007091:Image Processing, Computer-Assisted; D016472:Motor Neuron Disease / Q000235:genetics / Q000473:pathology / Q000523:psychology / Q000628:therapy; D009154:Mutation; D059906:Neuroimaging; D018696:Neuroprotective Agents / Q000627:therapeutic use; D009483:Neuropsychological Tests; D010348:Patient Care Team; D011379:Prognosis; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D019782:Riluzole / Q000627:therapeutic use
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D004268:DNA-Binding Proteins; D018696:Neuroprotective Agents; D011506:Proteins; C000598624:TARDBP protein, human; D019782:Riluzole