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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Multimodal neuroimaging analysis in patients with SYNE1 Ataxia

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Author(s):
Gama, Maria T. D. [1, 2] ; Piccinin, Camila C. [3, 4] ; Rezende, Thiago J. R. [3, 4] ; Dion, Patrick A. [5] ; Rouleau, Guy A. [5] ; Franca Junior, Marcondes C. [3, 4] ; Barsottini, Orlando G. P. [1, 2] ; Pedroso, Jose Luiz [1, 2]
Total Authors: 8
Affiliation:
[1] Univ Fed Sao Paulo, Dept Neurol, Ataxia Unit, Sao Paulo - Brazil
[2] Univ Fed Sao Paulo, Dept Neurol, Div Gen Neurol, Sao Paulo - Brazil
[3] Univ Estadual Campinas, Dept Neurol, Campinas, SP - Brazil
[4] Univ Estadual Campinas, Neuroimaging Lab, Campinas, SP - Brazil
[5] Montreal Neurol Inst, Dept Neurol & Neurosurg, Montreal, PQ - Canada
Total Affiliations: 5
Document type: Journal article
Source: JOURNAL OF THE NEUROLOGICAL SCIENCES; v. 390, p. 227-230, JUL 15 2018.
Web of Science Citations: 2
Abstract

Background: The gene SYNE1 is highly expressed in the cerebellum and its dysfunction is related to an autosomal recessive ataxia (SYNE1-ataxia). The disease was firstly considered a pure cerebellar ataxia however, recent studies have described a broader clinical presentation, including motor neuron disease symptoms. Objectives: To investigate cerebellar and potential extra-cerebellar changes in SYNE1-ataxia using multimodal neuroimaging analyses. Methods: Six patients completed clinical and imaging exams, and were compared to age-gender-matched healthy controls. Gray matter was analyzed using FreeSurfer and CERES for brain and cerebellum, respectively. White matter was analyzed with DTI-TBSS while we used SpineSeg for spinal cord analysis. Results: We found significantly reduced cortical thickness (p < 0.05, FDR-corrected) in primary and association cortices, and volume reduction in subcortical structures, brainstem and cerebellum. White matter was found disrupted in both brain and cerebellum (p < 0.05, FWE-corrected). These results are consistent with the expression of the SYNE1 mRNA and its encoded protein in the brain. We failed to demonstrate spinal cord changes. Conclusions: SYNE/-ataxia is, therefore, a relatively common cause of recessive ataxia characterized by complex multisystemic neurostructural changes consistent with the phenotypic heterogeneity and neuroimaging configures a potential marker of the disease. (AU)

FAPESP's process: 13/07559-3 - BRAINN - The Brazilian Institute of Neuroscience and Neurotechnology
Grantee:Fernando Cendes
Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC