RESUMEN
Schizophrenia (SCZ) and bipolar disorder (BD) are severe psychiatric disorders that share clinical features and several risk genes. Important information about their genetic underpinnings arises from intermediate phenotypes (IPs), quantifiable biological traits that are more prevalent in unaffected relatives (RELs) of patients compared to the general population and co-segregate with the disorders. Within IPs, neuropsychological functions and neuroimaging measures have the potential to provide useful insight into the pathophysiology of SCZ and BD. In this context, the present narrative review provides a comprehensive overview of the available evidence on deficits in neuropsychological functions and neuroimaging alterations in unaffected relatives of SCZ (SCZ-RELs) and BD (BD-RELs). Overall, deficits in cognitive functions including intelligence, memory, attention, executive functions, and social cognition could be considered IPs for SCZ. Although the picture for cognitive alterations in BD-RELs is less defined, BD-RELs seem to present worse performances compared to controls in executive functioning, including adaptable thinking, planning, self-monitoring, self-control, and working memory. Among neuroimaging markers, SCZ-RELs appear to be characterized by structural and functional alterations in the cortico-striatal-thalamic network, while BD risk seems to be associated with abnormalities in the prefrontal, temporal, thalamic, and limbic regions. In conclusion, SCZ-RELs and BD-RELs present a pattern of cognitive and neuroimaging alterations that lie between patients and healthy individuals. Similar abnormalities in SCZ-RELs and BD-RELs may be the phenotypic expression of the shared genetic mechanisms underlying both disorders, while the specificities in neuropsychological and neuroimaging profiles may be associated with the differential symptom expression in the two disorders.
RESUMEN
BACKGROUND: Catatonia is a complex psychomotor disorder characterized by motor, affective, and behavioral symptoms. Despite being known for almost 150 years, its pathomechanisms are still largely unknown. METHODS: A systematic research on PubMed, Web of Science, and Scopus was conducted to identify neuroimaging studies conducted on group or single individuals with catatonia. Overall, 33 studies employing structural magnetic resonance imaging (sMRI, n = 11), functional magnetic resonance imaging (fMRI, n = 10), sMRI and fMRI (n = 2), functional near-infrared spectroscopy (fNIRS, n = 1), single positron emission computer tomography (SPECT, n = 4), positron emission tomography (PET, n = 4), and magnetic resonance spectroscopy (MRS, n = 1), and 171 case reports were retrieved. RESULTS: Observational sMRI studies showed numerous brain changes in catatonia, including diffuse atrophy and signal hyperintensities, while case-control studies reported alterations in fronto-parietal and limbic regions, the thalamus, and the striatum. Task-based and resting-state fMRI studies found abnormalities located primarily in the orbitofrontal, medial prefrontal, motor cortices, cerebellum, and brainstem. Lastly, metabolic and perfusion changes were observed in the basal ganglia, prefrontal, and motor areas. Most of the case-report studies described widespread white matter lesions and frontal, temporal, or basal ganglia hypoperfusion. CONCLUSIONS: Catatonia is characterized by structural, functional, perfusion, and metabolic cortico-subcortical abnormalities. However, the majority of studies and case reports included in this systematic review are affected by considerable heterogeneity, both in terms of populations and neuroimaging techniques, which calls for a cautious interpretation. Further elucidation, through future neuroimaging research, could have great potential to improve the description of the neural motor and psychomotor mechanisms underlying catatonia.
