F. Volkmar, M. State, and A. Klin, Autism and autism spectrum disorders: diagnostic issues for the coming decade, Journal of Child Psychology and Psychiatry, vol.37, issue.1-2, pp.108-115, 2009.
DOI : 10.1111/j.1469-7610.2008.02010.x

N. Alderson, B. Rembiesa, M. Walla, A. Bielawska, J. Bielawski et al., The Human FA2H Gene Encodes a Fatty Acid 2-Hydroxylase, Journal of Biological Chemistry, vol.279, issue.47, pp.27948562-48568, 2004.
DOI : 10.1074/jbc.M406649200

J. Wolff, H. Gu, G. Gerig, J. Elison, M. Styner et al., Differences in White Matter Fiber Tract Development Present From 6 to 24 Months in Infants With Autism, American Journal of Psychiatry, vol.169, issue.6, pp.169589-600
DOI : 10.1176/appi.ajp.2011.11091447

I. Voineagu, X. Wang, P. Johnston, J. Lowe, Y. Tian et al., Transcriptomic analysis of autistic brain reveals convergent molecular pathology, Nature, vol.38, issue.7351, pp.474380-384, 2011.
DOI : 10.1038/nature10110

R. Toro, M. Konyukh, R. Delorme, C. Leblond, P. Chaste et al., Key role for gene dosage and synaptic homeostasis in autism spectrum disorders, Trends in Genetics, vol.26, issue.8, pp.26363-372, 2010.
DOI : 10.1016/j.tig.2010.05.007

E. Courchesne and K. Pierce, Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection, Current Opinion in Neurobiology, vol.15, issue.2, pp.225-230, 2005.
DOI : 10.1016/j.conb.2005.03.001

H. Hama, Fatty acid 2-Hydroxylation in mammalian sphingolipid biology, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1801, issue.4, pp.405-414
DOI : 10.1016/j.bbalip.2009.12.004

K. Dick, M. Eckhardt, C. Paisan-ruiz, A. Alshehhi, C. Proukakis et al., Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35), Human Mutation, vol.31, issue.4, pp.31-1251, 2010.
DOI : 10.1002/humu.21205

S. Edvardson, H. Hama, A. Shaag, J. Gomori, I. Berger et al., Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia, The American Journal of Human Genetics, vol.83, issue.5, pp.643-648, 2008.
DOI : 10.1016/j.ajhg.2008.10.010

T. Pierson, D. Simeonov, M. Sincan, D. Adams, T. Markello et al., Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration, European Journal of Human Genetics, vol.152, issue.4, pp.476-479
DOI : 10.1074/jbc.M406649200

M. Kruer, C. Paisan-ruiz, N. Boddaert, M. Yoon, H. Hama et al., Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA), Annals of Neurology, vol.34, issue.5, pp.68611-618, 2010.
DOI : 10.1002/ana.22122

D. Pinto, A. Pagnamenta, L. Klei, R. Anney, D. Merico et al., Functional impact of global rare copy number variation in autism spectrum disorders, Nature, vol.81, issue.7304, pp.466368-372, 2010.
DOI : 10.1038/nature09146
URL : https://hal.archives-ouvertes.fr/inserm-00521387

C. Leblond, R. Delorme, C. Proepper, C. Betancur, H. Huguet et al., Co-occurrence of de novo SHANK2 deletions and inherited 15q11-q13 CNVs supports a multiple hit model of autism spectrum disorders, Plos Genet, 2012.

J. Duvall, A. Lu, R. Cantor, R. Todd, J. Constantino et al., A Quantitative Trait Locus Analysis of Social Responsiveness in Multiplex Autism Families, American Journal of Psychiatry, vol.164, issue.4, pp.656-662, 2007.
DOI : 10.1176/ajp.2007.164.4.656

C. Garone, T. Pippucci, D. Cordelli, R. Zuntini, G. Castegnaro et al., FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype, Developmental Medicine & Child Neurology, vol.22, issue.10, 2011.
DOI : 10.1111/j.1469-8749.2011.03993.x

R. Rupps, J. Hukin, M. Balicki, S. Mercimek-mahmutoglu, A. Rolfs et al., -Associated Neurodegeneration, Journal of Child Neurology, vol.72, issue.11, 2012.
DOI : 10.1038/nmeth0410-248
URL : https://hal.archives-ouvertes.fr/hal-01268053

A. Tonelli, D. Angelo, M. Arrigoni, F. Brighina, E. Arnoldi et al., Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation, European journal of neurology : the official journal of the European Federation of Neurological Societies, vol.2012, issue.11, pp.19-127

L. Cao, X. Huang, C. Chen, and S. Chen, A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: A case report with literature review, Journal of the Neurological Sciences, vol.329, issue.1-2, pp.1-5
DOI : 10.1016/j.jns.2013.02.026

C. Lord, M. Rutter, S. Goode, J. Heemsbergen, H. Jordan et al., Autism diagnostic observation schedule: a standardized observation of communicative and social behavior, J Autism Dev Disord, vol.19, issue.2, pp.185-212, 1989.
DOI : 10.1037/t54175-000

C. Lord, M. Rutter, L. Couteur, and A. , Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders, Journal of Autism and Developmental Disorders, vol.93, issue.5, pp.659-685, 1994.
DOI : 10.1007/BF02172145

T. Shaikh, X. Gai, J. Perin, J. Glessner, H. Xie et al., High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications, Genome Research, vol.19, issue.9, pp.1682-1690, 2009.
DOI : 10.1101/gr.083501.108

B. Neale, Y. Kou, L. Liu, A. Ma-'ayan, K. Samocha et al., Patterns and rates of exonic de novo mutations in autism spectrum disorders, Nature, vol.7, issue.7397, pp.485242-245
DOI : 10.1038/nature11011
URL : https://hal.archives-ouvertes.fr/inserm-00939274

D. Geschwind, Genetics of autism spectrum disorders, Trends in Cognitive Sciences, vol.15, issue.9, pp.409-416, 2011.
DOI : 10.1016/j.tics.2011.07.003

B. Zikopoulos and H. Barbas, Changes in Prefrontal Axons May Disrupt the Network in Autism, Journal of Neuroscience, vol.30, issue.44, pp.14595-14609, 2010.
DOI : 10.1523/JNEUROSCI.2257-10.2010

Y. Cheng, K. Chou, I. Chen, Y. Fan, J. Decety et al., Atypical development of white matter microstructure in adolescents with autism spectrum disorders, NeuroImage, vol.50, issue.3, pp.873-882, 2010.
DOI : 10.1016/j.neuroimage.2010.01.011

M. Langen, A. Leemans, P. Johnston, C. Ecker, E. Daly et al., Fronto-striatal circuitry and inhibitory control in autism: Findings from diffusion tensor imaging tractography, Cortex, vol.48, issue.2, 2011.
DOI : 10.1016/j.cortex.2011.05.018