OMIM_GOF@xiajingbo:104311-31-PSEN1
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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.
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