A novel PSEN1 (p.Gln223Leu) variant associated with spastic paraparesis and early-onset Alzheimer's disease
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We report a novel PSEN1 likely pathogenic variant associated with spastic paraparesis (SP) preceding cognitive decline. A 41-year-old man with a two-year history of SP followed by cognitive impairment one year later, was found to carry a heterozygous PSEN1 c.6... ...
