Multimodal neuroimaging analysis in patients with SYNE1 Ataxia

Autor(es)

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]}

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF THE NEUROLOGICAL SCIENCES; v. 390, p. 227-230, JUL 15 2018.
• Citações Web of Science: 2

Resumo

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)

• Processo FAPESP: 13/07559-3 - Instituto Brasileiro de Neurociência e Neurotecnologia - BRAINN
• Beneficiário: Fernando Cendes
• Modalidade de apoio: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs