PMC:4385177 / 22754-23997 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4385177","sourcedb":"PMC","sourceid":"4385177","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4385177","text":"Hippocalcin has been most intensely studied in relation to its role in synaptic plasticity within the hippocampus, where it is hypothesized to play a role in memory formation. Indeed, Hpca-knockout mice show deficits in tests of spatial and associative memory in the absence of any obvious structural abnormalities within the brain.30 Difficulties with memory were not, however, reported by any of the individuals in whom we detected HPCA mutations, and this study did not have ethical approval or funding to perform detailed neuropsychological testing. However, recent neuropsychological testing performed with consent as part of the medical investigation of one member of the index family did show evidence of cognitive underfunctioning, including particular difficulties in encoding verbal and visual information. Whether memory deficits represent a subtle and variable associated phenotype in humans with HPCA mutations (as does hyposmia in those with GNAL mutations37) or whether the neuropsychological deficits observed in the individual in this study were an incidental finding remains an open question that only the identification of further affected individuals and a study dedicated to their neuropsychological profiling will answer.","tracks":[{"project":"2_test","denotations":[{"id":"25799108-15878804-2046608","span":{"begin":332,"end":334},"obj":"15878804"},{"id":"25799108-23449625-2046609","span":{"begin":970,"end":972},"obj":"23449625"}],"attributes":[{"subj":"25799108-15878804-2046608","pred":"source","obj":"2_test"},{"subj":"25799108-23449625-2046609","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#93a6ec","default":true}]}]}}