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Background: Several resting-state neuroimaging studies in schizophrenia indicate an excessive brain activity while others report an incoherent brain activity at rest. No direct evidence for the simultaneous presence of both excessive and incoherent brain activity has been established to date. Moreover, it is unclear whether unaffected siblings of schizophrenia patients who share half of the affected patient's genotype also exhibit the excessive and incoherent brain activity that may render them vulnerable to the development of schizophrenia.
Methods: 27 pairs of schizophrenia patients and their unaffected siblings, as well as 27 healthy controls, were scanned using gradient-echo echo-planar imaging at rest. By using amplitude of low-frequency fluctuations (ALFF) and regional homogeneity (Reho), we investigated the intensity and synchronization of local spontaneous neuronal activity in three groups.
Results: We observed that increased amplitude and reduced synchronization (coherence) of spontaneous neuronal activity were shared by patients and their unaffected siblings. The key brain regions with this abnormal neural pattern in both patients and siblings included the middle temporal, orbito-frontal, inferior occipital and fronto-insular gyrus.
Conclusions: This abnormal neural pattern of excessive and incoherent neuronal activity shared by schizophrenia patients and their healthy siblings may improve our understanding of neuropathology and genetic predisposition in schizophrenia.
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http://dx.doi.org/10.1016/j.schres.2016.01.022 | DOI Listing |
We recently showed that mutations in and , two genes that are transcribed into small nuclear RNA (snRNA) components of the major spliceosome, are prevalent causes of dominant neurodevelopmental disorders (NDDs). By genetic association comparing 12,776 NDD cases with 56,064 controls, we now demonstrate the existence of a recessive form of syndrome that, in England, is even more common than the dominant form. We inferred log Bayes factors for dominant and recessive models of association of 14.
View Article and Find Full Text PDFGenes (Basel)
August 2025
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.
Hereditary ataxias are a highly heterogenous group of diseases characterized by loss of coordination. In this study, we investigated a family of random-bred dogs, in which two siblings were affected by a slowly progressive ataxia. They presented with clinical signs of progressive cerebellar ataxia, hypermetria, and absent menace response.
View Article and Find Full Text PDFInt J Dev Neurosci
August 2025
Pediatric Neurology Clinic, Private Practice, Diyarbakır, Turkey.
Objective: Pontocerebellar hypoplasia (PCH) encompasses a heterogeneous group of neurodevelopmental disorders, currently comprising 28 subtypes listed in the Online Mendelian Inheritance in Man (OMIM) database (as of May 2025). No clinical phenotype has been associated with the TTC1 gene in OMIM. In this report, we present four female patients from two unrelated families exhibiting PCH with cerebral periventricular leukomalacia and additional clinical features potentially linked to TTC1.
View Article and Find Full Text PDFOrphanet J Rare Dis
August 2025
Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
Background: Vanishing White matter (VWM) is one of the more prevalent leukodystrophies, caused by biallelic pathogenic variants in any of the EIF2B1-5 genes. It is characterized by chronic progressive neurological deterioration and additional stress-provoked episodes of rapid decline, leading to severe neurological impairment and early death. The impact of VWM on unaffected family members has not been investigated.
View Article and Find Full Text PDFCirc Genom Precis Med
August 2025
Department of Clinical Sciences, North Carolina State University, College of Veterinary Medicine, Raleigh. (V.N.R., M.W.V., D.V.M., S.M.L., J.A.S.).
Background: Hypertrophic cardiomyopathy (HCM) is a naturally occurring cardiac disorder afflicting humans, cats, rhesus macaques, pigs, and rarely dogs. The disease is characterized by maladaptive left ventricular wall thickening. Over 1500 sarcomere-coding mutations explain HCM in humans, whereas only 3 have been reported in cat breeds.
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