title: Myelin paucity of the superior cerebellar peduncle in individuals with Friedreich ataxia: an MRI magnetization transfer imaging study.
abstract: The dentate nucleus (DN) is the major relay station for neural connection between the cerebellum and cerebrum via the thalamus, and is a significant component of the neuropathological profile of Friedreich ataxia (FRDA). We have previously shown that the size of the superior cerebellar peduncle (SCP), which links the DN to cortical and subcortical structures via the thalamus, is significantly reduced in individuals with FRDA compared to control participants. This study used magnetization transfer imaging (MTI) to examine and contrast the integrity of white matter (WM) in the SCP and the corpus callosum (CC) (control region) in ten individuals with FRDA and ten controls. Individuals with FRDA demonstrated a significant reduction in the magnetization transfer ratio (MTR) in the SCP compared to control participants. However, there was no significant difference between groups in MTR in the CC. When comparing regions within groups, there was a significant reduction in MTR in the SCP compared to CC in participants with FRDA only. We suggest that the reduction in MTR in the SCP may be indicative of lack of myelin secondary to axonal loss and oligodendroglial dysfunction in WM tracts in individuals with FRDA.
authors.affiliation: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville 3052, Victoria, Australia; Monash Medical Centre, Monash Health, Clayton, Victoria 3168, Australia; School of Psychological Sciences, Monash University, Clayton, Victoria 3800, Australia. Electronic address: louise.corben@vcgs.org.au.
authors.forename: Louise A
authors.initials: LA
authors.lastname: Corben
authors.affiliation: Monash Biomedical Imaging, Monash University, Clayton, Victoria 3800, Australia; College of Engineering and Science, Victoria University, Melbourne 8001, Victoria, Australia.
authors.forename: Saman R
authors.initials: SR
authors.lastname: Kashuk
authors.affiliation: Monash Biomedical Imaging, Monash University, Clayton, Victoria 3800, Australia.
authors.forename: Hamed
authors.initials: H
authors.lastname: Akhlaghi
authors.affiliation: Monash Biomedical Imaging, Monash University, Clayton, Victoria 3800, Australia; School of Psychological Sciences, Monash University, Clayton, Victoria 3800, Australia.
authors.forename: Sharna
authors.initials: S
authors.lastname: Jamadar
authors.affiliation: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville 3052, Victoria, Australia; School of Psychological Sciences, Monash University, Clayton, Victoria 3800, Australia; Department of Clinical Genetics, Austin Health, Heidelberg, Victoria 3084, Australia.
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
authors.affiliation: School of Psychological Sciences, Monash University, Clayton, Victoria 3800, Australia.
authors.forename: Joanne
authors.initials: J
authors.lastname: Fielding
authors.affiliation: Monash Biomedical Imaging, Monash University, Clayton, Victoria 3800, Australia; School of Psychological Sciences, Monash University, Clayton, Victoria 3800, Australia.
authors.forename: Beth
authors.initials: B
authors.lastname: Johnson
authors.affiliation: School of Psychological Sciences, Monash University, Clayton, Victoria 3800, Australia.
authors.forename: Nellie
authors.initials: N
authors.lastname: Georgiou-Karistianis
authors.affiliation: Monash Biomedical Imaging, Monash University, Clayton, Victoria 3800, Australia; School of Psychological Sciences, Monash University, Clayton, Victoria 3800, Australia.
authors.forename: Gary F
authors.initials: GF
authors.lastname: Egan
mesh_terms: D000328:Adult; D016880:Anisotropy; D002531:Cerebellum / Q000473:pathology*; D003337:Corpus Callosum / Q000473:pathology; D056324:Diffusion Tensor Imaging; D005260:Female; D005621:Friedreich Ataxia / Q000473:pathology*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008297:Male; D008875:Middle Aged; D009186:Myelin Sheath / Q000473:pathology*; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D011149:Pons / Q000473:pathology*; D012720:Severity of Illness Index; D013223:Statistics as Topic; D055815:Young Adult
keywords: Axonopathy; Frataxin; Friedreich ataxia; Magnetization transfer ratio; Myelin; Oligodendrocytes