Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation
Abstract
The authors describe four members of a family with a novel P284S presenilin 1 mutation presenting a clinical phenotype characterized by early-onset dementia, paratetraparesis, dysarthria, dysphagia, and marked involvement of brain white matter. The distinctive clinical and MRI findings in the family studied extend the phenotypic spectrum of dementia associated with mutation of the PS1 gene.
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Published online: November 23, 2005
Published in print: January 10, 2006
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- Clinical and Molecular Findings in a Turkish Family Who Had a (c.869- 1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis, Current Alzheimer Research, 19, 3, (223-235), (2022).https://doi.org/10.2174/1567205019666220414101251
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