J Neurol Neurosurg Psychiatry 2017 Nov 14;88(11):917-924. Epub 2017 Jul 14.
Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.
Download full-text PDF
Exp Neurol 2009 Nov 28;220(1):177-82. Epub 2009 Aug 28.
Department of Neurology, Westmead Hospital and Western Clinical School, University of Sydney, Sydney, New South Wales, Australia.
Amyotrophic lateral sclerosis [ALS] is a rapidly progressive neurodegenerative disorder of motor neurons, heralded by the development of cortical hyperexcitability. Reduction of short interval intracortical inhibition [SICI] in ALS, a feature linked to the development of cortical hyperexcitability, may be mediated by degeneration of inhibitory circuits or alternatively activation of high threshold excitatory circuits. As such, determining the mechanisms of SICI reduction in ALS has clear diagnostic and therapeutic significance. Read More
PLoS One 2014 24;9(1):e87124. Epub 2014 Jan 24.
Sydney Medical School Westmead, University of Sydney, Sydney, NSW, Australia ; Neuroscience Research Australia, Sydney, NSW, Australia.
The split-hand phenomenon, a specific feature of amyotrophic lateral sclerosis (ALS), refers to preferential wasting of abductor pollicis brevis (APB) and first dorsal interosseous (FDI) with relative preservation of abductor digiti minimi (ADM). The pathophysiological mechanisms underlying the split-hand phenomenon remain elusive and resolution of this issue would provide unique insights into ALS pathophysiology. Consequently, the present study dissected out the relative contribution of cortical and peripheral processes in development of the split-hand phenomenon in ALS. Read More
JAMA Neurol 2015 Nov;72(11):1268-74
Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.
Importance: The identification of the chromosome 9 open reading frame 72 (c9orf72) gene hexanucleotide repeat expansion represents a major advance in the understanding of amyotrophic lateral sclerosis (ALS) pathogenesis. The pathophysiological mechanism by which the c9orf72 gene expansion leads to neurodegeneration is not yet elucidated. Cortical hyperexcitability is potentially an important pathophysiological process in sporadic ALS and familial ALS (FALS). Read More
Brain 2012 Mar 17;135(Pt 3):709-22. Epub 2012 Feb 17.
Division of Neurology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
Frontotemporal dementia and amyotrophic lateral sclerosis are closely related clinical syndromes with overlapping molecular pathogenesis. Several families have been reported with members affected by frontotemporal dementia, amyotrophic lateral sclerosis or both, which show genetic linkage to a region on chromosome 9p21. Recently, two studies identified the FTD/ALS gene defect on chromosome 9p as an expanded GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 gene (C9ORF72). Read More