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

Ishani Sahama, Kate Sinclair, Simona Fiori, James Doecke, Kerstin Pannek, Lee Reid, Martin Lavin, Stephen Rose

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Background 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. Methods 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. Results 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. Conclusions 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.

Original languageEnglish
Pages (from-to)206-215
Number of pages10
JournalNeuroImage: Clinical
Volume9
DOIs
Publication statusPublished - Sep 9 2015

Fingerprint

Efferent Pathways
Ataxia Telangiectasia
Diffusion Tensor Imaging
Pyramidal Tracts
Diffusion Magnetic Resonance Imaging
Anisotropy
Mutation
Cerebellum
Genes

Keywords

  • Ataxia telangiectasia
  • Cerebellum
  • Diffusion magnetic resonance imaging
  • Whole tract statistics

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Cognitive Neuroscience
  • Neurology

Cite this

Sahama, I., Sinclair, K., Fiori, S., Doecke, J., Pannek, K., Reid, L., ... Rose, S. (2015). Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study. NeuroImage: Clinical, 9, 206-215. https://doi.org/10.1016/j.nicl.2015.08.007

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; Rose, Stephen.

In: NeuroImage: Clinical, Vol. 9, 09.09.2015, p. 206-215.

Research output: Contribution to journalArticle

Sahama, I, Sinclair, K, Fiori, S, Doecke, J, Pannek, K, Reid, L, Lavin, M & Rose, S 2015, 'Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study', NeuroImage: Clinical, vol. 9, pp. 206-215. https://doi.org/10.1016/j.nicl.2015.08.007
Sahama, Ishani ; Sinclair, Kate ; Fiori, Simona ; Doecke, James ; Pannek, Kerstin ; Reid, Lee ; Lavin, Martin ; Rose, Stephen. / Motor pathway degeneration in young ataxia telangiectasia patients : A diffusion tractography study. In: NeuroImage: Clinical. 2015 ; Vol. 9. pp. 206-215.
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N2 - Background 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. Methods 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. Results 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. Conclusions 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.

AB - Background 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. Methods 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. Results 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. Conclusions 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.

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KW - Diffusion magnetic resonance imaging

KW - Whole tract statistics

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