Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Oguz, K, Haliloglu, G, Temucin, C, Gocmen, R, Has, A, Doerschner, K, Dolgun, N and Alikasifoglu, M 2013, 'Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay', American Journal of Neuroradiology, vol. 34, no. 10, pp. 1952-1957.


Document type: Journal Article
Collection: Journal Articles

Title Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Author(s) Oguz, K
Haliloglu, G
Temucin, C
Gocmen, R
Has, A
Doerschner, K
Dolgun, N
Alikasifoglu, M
Year 2013
Journal name American Journal of Neuroradiology
Volume number 34
Issue number 10
Start page 1952
End page 1957
Total pages 6
Publisher American Society of Neuroradiology
Abstract BACKGROUND AND PURPOSE: Extension and characteristics of WM involvement other than the brain stem remain inadequately investigated in ARSACS. The aim of this study was to investigate whole-brain WM alterations in patients with ARSACS. MATERIALS AND METHODS: Nine Turkish unrelated patients with ARSACS and 9 sex-and age-matched healthy control participants underwent neurologic examination, molecular studies, electrophysiologic studies, and DTI of the brain. TBSS was used for whole-brain voxelwise analysis of FA, AD, RD, mean diffusivity of WM. Tractographies for the CST and TPF were also computed. RESULTS: Molecular studies revealed 8 novel mutations (3 nonsense, 4 missense, and 1 frameshift insertion) and a missense variation in the SACS gene. Thick TPF displaced and compressed the CST in the pons. The TPF had increased FA, decreased RD, and increased AD, which may be attributed to hypertrophy and/or hypermyelination. Widespread decreased FA and increased RD, suggesting demyelination, was found in the limbic, commissural, and projection fibers. In addition to demyelination, CST coursing cranial and caudal to the pons also showed a marked decrease in AD, suggesting axonal degeneration. Electrophysiologic studies revealed findings that concur with demyelination and axonal involvement. CONCLUSIONS: In addition to developmental changes of the TPF and their effects on the CST in the brain stem, axonal degeneration mainly along the pyramidal tracts and widespread demyelination in WM also occur in patients with ARSACS. Widespread tissue damage may be associated with extensive loss of sacsin protein in the brain and may explain a wide range of progressive neurologic abnormalities in patients with ARSACS.
Subject Radiology and Organ Imaging
Applied Statistics
DOI - identifier 10.3174/ajnr.A3488
ISSN 0195-6108
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