Effects of SYN1 Q555X mutation on cortical gray matter microstructure

A new Q555X mutation on the SYN1 gene was recently found in several members of a family segregating dyslexia, epilepsy, and autism spectrum disorder. To describe the effects of this mutation on cortical gray matter microstructure, we performed a surface-based group study using novel diffusion and qu...

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Bibliographic Details
Published in:Human brain mapping 2018-08, Vol.39 (8), p.3428-3448
Main Authors: Cabana, Jean-François, Gilbert, Guillaume, Létourneau-Guillon, Laurent, Safi, Dima, Rouleau, Isabelle, Cossette, Patrick, Nguyen, Dang Khoa
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Brain - diagnostic imaging
Cell Cycle Proteins - genetics
Family
Female
Gray Matter - diagnostic imaging
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Multimodal Imaging
Mutation
Pedigree
Synapsins
Young Adult
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Summary:A new Q555X mutation on the SYN1 gene was recently found in several members of a family segregating dyslexia, epilepsy, and autism spectrum disorder. To describe the effects of this mutation on cortical gray matter microstructure, we performed a surface-based group study using novel diffusion and quantitative multiparametric imaging on 13 SYN1 mutation carriers and 13 age- and sex-matched controls. Specifically, diffusion kurtosis imaging (DKI) and neurite orientation and dispersion and density imaging (NODDI) were used to analyze multi-shell diffusion data and obtain parametric maps sensitive to tissue structure, while quantitative metrics sensitive to tissue composition (T1, T2* and relative proton density [PD]) were obtained from a multi-echo variable flip angle FLASH acquisition. Results showed significant microstructural alterations in several regions usually involved in oral and written language as well as dyslexia. The most significant changes in these regions were lowered mean diffusivity and increased fractional anisotropy. This study is, to our knowledge, the first to successfully use diffusion imaging and multiparametric mapping to detect cortical anomalies in a group of subjects with a well-defined genotype linked to language impairments, epilepsy and autism spectrum disorder (ASD).
ISSN:1065-9471
1097-0193
DOI:10.1002/hbm.24186