Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of charlevoix-saguenay
Please cite this item using this persistent URLhttp://hdl.handle.net/11693/20797
American Journal of Neuroradiology
- Research Paper 
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.
Showing items related by title, author, creator and subject.
Muscle Hemangiomatosis presenting as a severe feature in a patient with the pten mutation: Expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome Soysal, Y.; Acun, T.; Lourenço, C.M.; Marques Jr. W.; Yakicier, M.C. (2012)Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal, dominantly-inherited, hamartoma syndrome with distinct phenotypic features. Mutations in the PTEN gene have been identified in PTEN hamartoma tumor syndromes. ...
Topçu, M.; Akyerli, C.; Sayi, A.; Törüner G.A.; Koçoǧlu, S.R.; Cimbiş, M.; Özçelik, T. (2002)Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal ...
Mutations in RAD21 disrupt regulation of apob in patients with chronic intestinal pseudo-obstruction Bonora, E.; Bianco F.; Cordeddu L.; Bamshad, M.; Francescatto L.; Dowless, D.; Stanghellini V.; Cogliandro, R.F.; Lindberg G.; Mungan, Z.; Cefle, K.; Ozcelik, T.; Palanduz, S.; Ozturk, S.; Gedikbasi, A.; Gori, A.; Pippucci, T.; Graziano, C.; Volta, U.; Caio G.; Barbara G.; D'Amato, M.; Seri, M.; Katsanis, N.; Romeo G.; De Giorgio, R. (W.B. Saunders, 2015)Background Aims Chronic intestinal pseudo-obstruction (CIPO) is characterized by severe intestinal dysmotility that mimics a mechanical subocclusion with no evidence of gut obstruction. We searched for genetic variants ...