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Neurosci Biobehav Rev. 2018 Jan;84:394-406. doi: 10.1016/j.neubiorev.2017.08.006. Epub 2017 Aug 18.

Cerebral abnormalities in Friedreich ataxia: A review.

Author information

1
School of Psychological Sciences & Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Melbourne, Australia.
2
School of Psychological Sciences & Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Melbourne, Australia; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Australia.
3
School of Psychological Sciences & Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Melbourne, Australia. Electronic address: nellie.georgiou-karistianis@monash.edu.

Abstract

Friedreich ataxia (FRDA) is an inherited degenerative disorder affecting multiple systems of the body and resulting in symptoms which include progressive ataxia, dysarthria, and cardiomyopathy. Central nervous system pathology has been traditionally ascribed to the spinal cord and dentate nucleus of the cerebellum. However, cerebral abnormalities in FRDA are being increasingly documented via multiple neuroimaging techniques. Understanding the nature and implications of cerebral abnormalities in FRDA provides more comprehensive knowledge of nervous system involvement in this disorder and increases the prospects of identifying effective treatment targets. We review the cerebellar and the cerebral involvement with a focus on the emerging in vivo human neuroimaging findings suggesting wide-spread cerebral involvement, including aberrant cerebellar-cerebral connectivity. We synthesise the findings by proposing potential mechanisms that may drive these effects. Finally, we identify future research directions which, we argue, will lead to a better understanding of the extent and potential mechanisms of cerebral aberrations in FRDA.

KEYWORDS:

Cerebro-cerebellar connectivity; Cerebrum; Diffusion tensor imaging (DTI); Friedreich ataxia; Functional magnetic resonance imaging (fMRI); Magnetic resonance imaging (MRI); Neurodegenerative disorder; Neuroimaging; Spino-cerebellar ataxia

PMID:
28823857
DOI:
10.1016/j.neubiorev.2017.08.006
[Indexed for MEDLINE]

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