ORCID Profile
0000-0001-6567-8910
Current Organisation
Ara Institute of Canterbury
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Publisher: Springer Science and Business Media LLC
Date: 25-07-2016
DOI: 10.1038/NG.3626
Publisher: Routledge
Date: 29-01-2016
Publisher: Elsevier BV
Date: 03-2018
Publisher: Elsevier BV
Date: 04-2014
DOI: 10.1016/J.NEUROBIOLAGING.2013.09.037
Abstract: Expansion of a GGGGCC repeat (RE) in the C9orf72 gene has been recently reported as the main genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Given the growing evidence of genetic and clinicopathologic overlap among ALS, FTD, and other neurodegenerative diseases, we investigated the occurrence of RE in a subset of 9 patients with ALS-plus syndromes, including Parkinson's disease (PD), progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy. We identified RE in 2 ALS-plus in iduals (22.2%) displaying PSP and CBS features. On the basis of this finding, we extended our analysis to a cohort composed of 190 PD, 103 CBS, 107 PSP, and 177 Alzheimer's disease cases. We did not identify any RE in these patients, indicating that C9orf72 is in all probability not involved in the pathogenesis of these disorders. However, the high frequency of C9orf72 RE in patients with ALS-plus syndromes suggests that, similar to ALS-FTD patients, in iduals with combined motor neuron and extrapyramidal features should be screened for RE, independent of their family history.
Publisher: Elsevier BV
Date: 10-2014
Publisher: American Association for the Advancement of Science (AAAS)
Date: 27-03-2015
Abstract: Amyotrophic lateral sclerosis (ALS), often referred to as “Lou Gehrig's disease,” is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Cirulli et al. sequenced the expressed genes of nearly 3000 ALS patients and compared them with those of more than 6000 controls (see the Perspective by Singleton and Traynor). They identified several proteins that were linked to disease in patients. One such protein, TBK1, is implicated in innate immunity and autophagy and may represent a therapeutic target. Science , this issue p. 1436 see also p. 1422
No related grants have been discovered for Claudia Colombrita.