Towards an understanding of cognitive function in Friedreich ataxia.
There is limited documentation regarding cognitive function in individuals with Friedreich ataxia (FRDA), possibly because FRDA is widely held to predominantly affect the spinal cord, peripheral sensory nerves and cerebellum and not to affect cognition. Traditionally, the cerebellum has been thought to coordinate voluntary movement and motor tone, posture and gait. However, recent studies have implicated the cerebellum in a range of cognitive functions including executive function, visuospatial organisation and memory. We review the available data on cognitive function and neuroimaging in FRDA and the role of the cerebellum in cognitive function. We conclude with recommendations for future research including correlating cognitive function in individuals with FRDA with possible determinants of disease severity, such as age of onset and the causative genetic mutation.
Corben
Louise A
LA
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia. louise.corben@ghsv.org.au
Georgiou-Karistianis
Nellie
N
Fahey
Michael C
MC
Storey
Elsdon
E
Churchyard
Andrew
A
Horne
Malcolm
M
Bradshaw
John L
JL
Delatycki
Martin B
MB
D002531:Cerebellum / Q000503:physiopathology*; D003071:Cognition / Q000502:physiology*; D003072:Cognition Disorders / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D005621:Friedreich Ataxia / Q000150:complications* / Q000473:pathology / Q000503:physiopathology*; D006801:Humans