OMIM_GOF@xiajingbo:104311-31-PSEN1 JSONTXT

{"project":"AGAC-2-2","denotations":[{"id":"T2","span":{"begin":185,"end":190},"obj":"Gene"},{"id":"T3","span":{"begin":197,"end":209},"obj":"Reg"},{"id":"T4","span":{"begin":212,"end":244},"obj":"Var"},{"id":"T5","span":{"begin":292,"end":305},"obj":"Var"},{"id":"T6","span":{"begin":327,"end":335},"obj":"PosReg"},{"id":"T7","span":{"begin":339,"end":365},"obj":"MPA"},{"id":"T1","span":{"begin":150,"end":177},"obj":"Var"}],"relations":[{"id":"R3","pred":"ThemeOf","subj":"T4","obj":"T3"},{"id":"R4","pred":"CauseOf","subj":"T5","obj":"T6"},{"id":"R5","pred":"ThemeOf","subj":"T7","obj":"T6"},{"id":"R1","pred":"ThemeOf","subj":"T2","obj":"T1"},{"id":"R2","pred":"CauseOf","subj":"T1","obj":"T3"}],"text":"In a patient with very-early-onset Alzheimer disease with spastic paraparesis and apraxia (see 607822), Ataka et al. (2004) identified a heterozygous 254T-C transition in exon 4 of the PSEN1 gene, resulting in a leu85-to-pro (L85P) substitution. Functional expression studies showed that the L85P mutation resulted in a 2-fold increase in amyloid-beta-42 production. The patient had onset at age 26 years, and symptoms and neuroimaging were consistent with the 'visual variant' of AD in which there is a visuospatial cognitive deficit. "}

{"project":"AGAC-2-1","denotations":[{"id":"T1","span":{"begin":135,"end":177},"obj":"Var"},{"id":"T3","span":{"begin":185,"end":190},"obj":"Gene"},{"id":"T4","span":{"begin":197,"end":209},"obj":"Reg"},{"id":"T5","span":{"begin":210,"end":244},"obj":"Var"},{"id":"T6","span":{"begin":292,"end":305},"obj":"Var"},{"id":"T8","span":{"begin":327,"end":335},"obj":"PosReg"},{"id":"T9","span":{"begin":339,"end":365},"obj":"MPA"}],"relations":[{"id":"R1","pred":"CauseOf","subj":"T1","obj":"T4"},{"id":"R2","pred":"ThemeOf","subj":"T5","obj":"T4"},{"id":"R3","pred":"ThemeOf","subj":"T3","obj":"T1"},{"id":"R4","pred":"CauseOf","subj":"T6","obj":"T8"},{"id":"R5","pred":"ThemeOf","subj":"T9","obj":"T8"}],"text":"In a patient with very-early-onset Alzheimer disease with spastic paraparesis and apraxia (see 607822), Ataka et al. (2004) identified a heterozygous 254T-C transition in exon 4 of the PSEN1 gene, resulting in a leu85-to-pro (L85P) substitution. Functional expression studies showed that the L85P mutation resulted in a 2-fold increase in amyloid-beta-42 production. The patient had onset at age 26 years, and symptoms and neuroimaging were consistent with the 'visual variant' of AD in which there is a visuospatial cognitive deficit. "}