학술논문
3D visualization of the regional differences
Document Type
article
Author
Ellegood, J; Anagnostou, E; Babineau, BA; Crawley, JN; Lin, L; Genestine, M; DiCicco-Bloom, E; Lai, JKY; Foster, JA; Peñagarikano, O; Geschwind, DH; Pacey, LK; Hampson, DR; Laliberté, CL; Mills, AA; Tam, E; Osborne, LR; Kouser, M; Espinosa-Becerra, F; Xuan, Z; Powell, CM; Raznahan, A; Robins, DM; Nakai, N; Nakatani, J; Takumi, T; van Eede, MC; Kerr, TM; Muller, C; Blakely, RD; Veenstra-VanderWeele, J; Henkelman, RM; Lerch, JP
Source
Molecular Psychiatry. 20(1)
Subject
Language
Abstract
Autism is a heritable disorder, with over 250 associated genes identified to date, yet no single gene accounts for >1-2% of cases. The clinical presentation, behavioural symptoms, imaging and histopathology findings are strikingly heterogeneous. A more complete understanding of autism can be obtained by examining multiple genetic or behavioural mouse models of autism using magnetic resonance imaging (MRI)-based neuroanatomical phenotyping. Twenty-six different mouse models were examined and the consistently found abnormal brain regions across models were parieto-temporal lobe, cerebellar cortex, frontal lobe, hypothalamus and striatum. These models separated into three distinct clusters, two of which can be linked to the under and over-connectivity found in autism. These clusters also identified previously unknown connections between Nrxn1α, En2 and Fmr1; Nlgn3, BTBR and Slc6A4; and also between X monosomy and Mecp2. With no single treatment for autism found, clustering autism using neuroanatomy and identifying these strong connections may prove to be a crucial step in predicting treatment response.