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A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer’s disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF

12 Nov 2009

Abstract excerpt

BACKGROUND AND PURPOSE: A novel presenilin1 (PSEN1) mutation associated with dementia and spastic paraplegia in a family with five affected individuals is described. The index patient was a 35-year-old man presenting with cognitive decline, behavioural symptoms, dysarthria, and gait disorder due to spasticity. METHODS AND RESULTS: Genetic analysis revealed a missense mutation Gln223Arg in exon 7. Initial CSF...

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PMID: 19912322
DOI: 10.1111/j.1468-1331.2009.02810.x

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