Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study

Sahama, Ishani, Sinclair, Kate, Fiori, Simona, Doecke, James, Pannek, Kerstin, Reid, Lee, Lavin, Martin and Rose, Stephen (2015) Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study. NeuroImage: Clinical, 9 206-215. doi:10.1016/j.nicl.2015.08.007

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Author Sahama, Ishani
Sinclair, Kate
Fiori, Simona
Doecke, James
Pannek, Kerstin
Reid, Lee
Lavin, Martin
Rose, Stephen
Title Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study
Journal name NeuroImage: Clinical   Check publisher's open access policy
ISSN 2213-1582
Publication date 2015-09-05
Year available 2015
Sub-type Article (original research)
DOI 10.1016/j.nicl.2015.08.007
Open Access Status DOI
Volume 9
Start page 206
End page 215
Total pages 10
Place of publication Amsterdam, The Netherlands
Publisher Elsevier
Language eng
Formatted abstract
Our understanding of the effect of ataxia–telangiectasia mutated gene mutations on brain structure and function is limited. In this study, white matter motor pathway integrity was investigated in ataxia telangiectasia patients using diffusion MRI and probabilistic tractography.

Diffusion MRI were obtained from 12 patients (age range: 7–22 years, mean: 12 years) and 12 typically developing age matched participants (age range 8–23 years, mean: 13 years). White matter fiber tracking and whole tract statistical analyses were used to assess quantitative fractional anisotropy and mean diffusivity differences along the cortico-ponto-cerebellar, cerebellar-thalamo-cortical, somatosensory and lateral corticospinal tract length in patients using a linear mixed effects model. White matter tract streamline number and apparent fiber density in patient and control tracts were also assessed.


Reduced fractional anisotropy along all analyzed patient tracts were observed (p < 0.001). Mean diffusivity was significantly elevated in anterior tract locations but was reduced within cerebellar peduncle regions of all patient tracts (p < 0.001). Reduced tract streamline number and tract volume in the left and right corticospinal and somatosensory tracts were observed in patients (p < 0.006). In addition, reduced apparent fiber density in the left and right corticospinal and right somatosensory tracts (p < 0.006) occurred in patients.

Whole tract analysis of the corticomotor, corticospinal and somatosensory pathways in ataxia telangiectasia showed significant white matter degeneration along the entire length of motor circuits, highlighting that ataxia–telangiectasia gene mutation impacts the cerebellum and multiple other motor circuits in young patients.
Keyword Ataxia telangiectasia
Diffusion magnetic resonance imaging
Whole tract statistics
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: UQ Centre for Clinical Research Publications
Official 2016 Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 2 times in Thomson Reuters Web of Science Article | Citations
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Created: Fri, 11 Sep 2015, 05:25:22 EST by Ishani Sahama on behalf of School of Medicine