The frontotemporal dementia-motor neuron disease continuum

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• 作者：James R Burrell ; PhD^a ; ^b ; Prof Glenda M Halliday ; PhD^a ; ^b ; Prof Jillian J Kril ; PhD^c ; Prof Lars M Ittner ; MD^a ; ^b ; Prof J&uuml ; rgen G&ouml ; tz ; PhD^e ; Prof Matthew C Kiernan ; DSc^a ; ^d ; Prof John R Hodges ; MD^a ; ^b ; ^{j.hodges@neura.edu.au" class="auth_mail" title="E-mail the corresponding author}
• 刊名：The Lancet
• 出版年：2016
• 出版时间：27 August-2 September 2016
• 年：2016
• 卷：388
• 期：10047
• 页码：919-931
• 全文大小：2577 K

文摘

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 (m>C9orf72m>) repeat expansion is common across the disease spectrum. Indeed, the m>C9orf72m> 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.