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Compelling evidence in Caucasian populations suggests a role for copy-number variations (CNVs) in autism spectrum disorder (ASD) and schizophrenia (SCZ). We analyzed 1,108 ASD cases, 2,458 SCZ cases, and 2,095 controls in a Japanese population and confirmed an increased burden of rare exonic CNVs in both disorders. Clinically significant (or pathogenic) CNVs, including those at 29 loci common to both disorders, were found in about 8% of ASD and SCZ cases, which was significantly higher than in controls. Phenotypic analysis revealed an association between clinically significant CNVs and intellectual disability. Gene set analysis showed significant overlap of biological pathways in both disorders including oxidative stress response, lipid metabolism/modification, and genomic integrity. Finally, based on bioinformatics analysis, we identified multiple disease-relevant genes in eight well-known ASD/SCZ-associated CNV loci (e.g., 22q11.2, 3q29). Our findings suggest an etiological overlap of ASD and SCZ and provide biological insights into these disorders.

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Background: The putative neural bases of affected episodic memory and emotional recognition in early Alzheimer’s disease are suspected to be limbic and paralimbic pathological processes. The uncinate fasciculus (UF) is especially considered to be a critical structure. In the present study, we investigated microstructural UF pathology by diffusion tensor imaging in the subjects with amnestic mild cognitive impairment (aMCI), and its association with memory and emotional processing impairment. Methods: Subjects included 16 patients with aMCI and 16 healthy individuals. Diffusion tensor images were acquired and the fractional anisotropy (FA) of the UF was calculated. In addition, its association with verbal memory and emotional facial recognition was investigated. Results: The FA values of the left UF were significantly lower in aMCI, and strongly correlated with episodic memory performance in aMCI. For the emotional recognition task, the aMCI subjects performed worse in negative emotion recognitions. The FA values of the left UF were correlated with the performance of fearful facial expression recognition in aMCI. Conclusion: These results indicated that microstructural alterations of the UF had already occurred in aMCI. In addition, these alterations could be one of the causes of memory and emotional processing impairment in aMCI.