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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

A Case of Transient Global Amnesia: A Review and How It May Shed Further Insight into the Neurobiology of Delusions
Conclusion In closing, our patient’s episode of TGA combined with her emotional and perceptual response lends credence to the proposal of a “fear/paranoia” circuit in the genesis of paranoid delusions—a circuit incorporating amygdala, frontal, and parietal cortices. Here, neutral or irrelevant stimuli, thoughts, and percepts come to engender fear and anxiety, while dysfunction in frontoparietal circuitry engenders inappropriate social predictions and maladaptive inferences about the intentions of others.[54] Hippocampus relays information about contextual information based on past experiences and the current situat...
Source: Innovations in Clinical Neuroscience - April 1, 2016 Category: Neuroscience Authors: ICN Online Editor Tags: Anxiety Disorders Behavioral and Cognitive Neurology Case Report Cognition Current Issue Dementia Medical Issues Neurologic Systems and Symptoms Psychiatry Schizophrenia delusions hippocampus neurobiology Transient global amnesia Source Type: research