1. Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study
- Author
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Stephen E. Rose, Kate Sinclair, James D. Doecke, Ishani Sahama, Simona Fiori, Lee B. Reid, Kerstin Pannek, and Martin F. Lavin
- Subjects
Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Cerebellum ,Pathology ,medicine.medical_specialty ,Adolescent ,Diffusion magnetic resonance imaging ,Cognitive Neuroscience ,Brain Structure and Function ,Degeneration (medical) ,Gene mutation ,lcsh:Computer applications to medicine. Medical informatics ,Efferent Pathways ,lcsh:RC346-429 ,White matter ,Ataxia Telangiectasia ,Young Adult ,Whole tract statistics ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Diffusion Tractography ,Child ,lcsh:Neurology. Diseases of the nervous system ,Brain ,Regular Article ,medicine.disease ,White Matter ,medicine.anatomical_structure ,Diffusion Tensor Imaging ,Neurology ,Ataxia-telangiectasia ,lcsh:R858-859.7 ,Female ,Neurology (clinical) ,Psychology ,Neuroscience ,Diffusion MRI - 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, Highlights • Corticomotor and corticospinal ataxia telangiectasia patient tracts were analyzed. • Decreases in fractional anisotropy occurred along patient tracts. • Mean diffusivity was reduced in cerebellar peduncles in patients. • Patient corticospinal streamline number and apparent fiber density were reduced. • Young ataxia telangiectasia patients show advanced white matter degeneration.
- Published
- 2015