Journal article

Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation

DR Hocking, RC Birch, QM Bui, JC Menant, SR Lord, N Georgiou-Karistianis, DE Godler, W Wen, A Hackett, C Rogers, JN Trollor

Neurobiology of Aging | ELSEVIER SCIENCE INC | Published : 2017

Abstract

Recent evidence indicates that adults with a premutation (PM: 55–199 CGG repeats) expansion in the fragile X mental retardation 1 (FMR1) gene show postural control deficits that may reflect disruption to cerebellar motor regions. Less is known about the influence of reduced cerebellar volume and structural changes, and increase in CGG repeat and FMR1 mRNA levels on the attentional demands of step initiation in PM males. We investigated the effects of a concurrent cognitive task on choice stepping reaction time (CSRT) and explored the associations between CSRT performance, cerebellar volume, CGG size, and FMR1 mRNA levels in blood in PM males. We examined 19 PM males (ages 28–75) and 23 match..

View full abstract

University of Melbourne Researchers

Grants

Awarded by Association pour la Recherche sur le Cancer


Funding Acknowledgements

This work was supported by the Dementia Collaborative Research Centre-Assessment and Better Care, UNSW Australia as part of the Australian Government's Dementia Initiative; and the Genetics of Learning Disability (GOLD) Service. Julian N. Trollor, Nellie Georgiou-Karistianis, and Wei Wen are supported by Discovery Project Grant DP110103346; Rachael C. Birch was supported by The New South Wales Institute of Psychiatry (Training Fellowship in Psychiatric Research); Darren R. Hocking was supported by a Monash University Research Fellowship and ARC Discovery Early Career Researcher Grant (DE160100042). David E. Godler was supported by NHMRC project grant [#104299], the Victorian Government's Operational Infrastructure Support Program and in part by Murdoch Childrens Research Institute Genetics Theme funding. David E. Godler salary component funded by National Health and Medical Research Council project grants (#1017263, and #1103389). In addition, we acknowledge the assistance from Neuroscience Research Australia on extraction of CSRT data. Finally, we are indebted to all the individuals who participated in this research. Darren R. Hocking contributed to the conception of the research project, design and execution of the statistical analysis, and writing of the first draft of the manuscript. Rachael C. Birch contributed to the organization and execution of the research project, review and critique of the statistical analysis and the manuscript. Quang M. Bui contributed to design and execution of statistical analysis and review and critique of the manuscript. Jasmine C. Menant contributed to organization of the research project, review and critique of the statistical analysis and the manuscript. Stephen R. Lord contributed to conception of the research project, review and critique of the statistical analysis and the manuscript. Nellie Georgiou-Karistianis contributed to review and critique of the manuscript. David E. Godler contributed to the execution of research project and review and critique of the statistical analysis. Wei Wen contributed to the conception and organization of research project and review and critique of the statistical analysis. Carolyn Rogers contributed to the execution of research project and review and critique of the statistical analysis. Anna Hackett contributed to the execution of research project and review and critique of the statistical analysis. Julian N. Trollor contributed to the conception of the research project, review and critique of the statistical analysis and the manuscript.