Journal
NEUROLOGY
Volume 57, Issue 10, Pages 1926-1928Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.57.10.1926
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The authors describe a novel missense mutation in the presenilin 2 (PSEN2) gene at residue 439 that predicts an aspartate-to-alanine substitution (D439A). This mutation was found in a 58-year old patient who displayed a progressive dementia at the age of 52. The mutation was absent in his cognitively normal relatives. Haplotype analysis indicated that his affected mother was the most probable mutation carrier. The D439A mutation is located near the C-terminal end of the PS2 protein, a region critical for endoproteolytic processing.
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