Lookup NU author(s): Dr Heather Moore,
Dr Alasdair Blain,
Professor Doug Turnbull,
Dr Grainne Gorman
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
The profile and trajectory of cognitive impairment in mitochondrial disease are poorly defined. This systematic review sought to evaluate the current literature on cognition in mitochondrial disease, and to determine future research directions. A systematic review was conducted, employing PubMed, Medline, Psycinfo, Embase and Web of Science, and 360-degree citation methods. English language papers on adult patients were included. The literature search yielded 2421 articles, of which 167 met inclusion criteria. Case reports and reviews of medical reports of patients yielded broad diagnoses of dementia, cognitive impairment and cognitive decline. In contrast, systematic investigations of cognitive functioning using detailed cognitive batteries identified focal cognitive rather than global deficits. Results were variable, but included visuospatial functioning, memory, attention, processing speed and executive functions. Conclusions from studies have been hampered by small sample sizes, variation in genotype and the breadth and depth of assessments undertaken. Comprehensive cognitive research with concurrent functional neuroimaging and physical correlates of mitochondrial disease in larger samples of well-characterized patients may discern the aetiology and progression of cognitive deficits. These data provide insights into the pattern and trajectory of cognitive impairments, which are invaluable for clinical monitoring, health planning and clinical trial readiness.
Author(s): Moore HL, Blain AP, Turnbull DM, Gorman GS
Publication type: Review
Publication status: Published
Journal: European Journal of Neurology
Print publication date: 06/12/2019
Online publication date: 25/08/2019
Acceptance date: 21/08/2019
ISSN (print): 1351-5101
ISSN (electronic): 1468-1331