Sensory neuronopathies: investigation of new diagnostic methods, mechanisms of the...
| Full text | |
| 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 type: | Research Grants - Research, Innovation and Dissemination Centers - RIDC |