Multimodal neuroimaging analysis in patients with SYNE1 Ataxia

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 symp...

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Bibliographic Details
Published in:	Journal of the neurological sciences Vol. 390; pp. 227 - 230
Main Authors:	Gama, Maria T.D., Piccinin, Camila C., Rezende, Thiago J.R., Dion, Patrick A., Rouleau, Guy A., França Junior, Marcondes C., Barsottini, Orlando G.P., Pedroso, José Luiz
Format:	Journal Article
Language:	English
Published:	Netherlands Elsevier B.V 15-07-2018
Subjects:	Adult Brain - diagnostic imaging Cerebellar Ataxia - diagnostic imaging Cerebellar Ataxia - genetics Cerebellum Female Gray matter Humans Image Processing, Computer-Assisted Magnetic Resonance Imaging Male Middle Aged Multimodal Imaging Nerve Tissue Proteins - genetics Neuroimaging Nuclear Proteins - genetics Recessive ataxia Spinal Cord - diagnostic imaging SYNE1 Neuroimaging Cerebellum Gray matter Recessive ataxia SYNE1
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Summary:	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. To investigate cerebellar and potential extra-cerebellar changes in SYNE1-ataxia using multimodal neuroimaging analyses. 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. 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. SYNE1-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. •The volume of subcortical structures and cerebellum were found reduced•Thickness was diminished in both primary and association brain cortices•WM was disrupted from the cortices down to the brainstem and cerebellum•Unlike Friederich's ataxia, the spinal cord was spared in the SYNE-1 ataxia•The findings are consistent with the broad clinical presentation of SYNE1 ataxia
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0022-510X 1878-5883
DOI:	10.1016/j.jns.2018.05.003