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New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism

1 Oct 2004

Abstract excerpt

In this report, we present the clinical and pathological details of a kindred of four individuals with a novel missense mutation (V272A) of the presenilin 1 gene (PSEN1) that experienced a subcortical dementia. The age of onset of symptoms ranged 26-36-year old, with an age at death of 36-46 years. Initial symptom was a marked mood disorder, with prominent parkinsonism in one case. The neuropsychological study,...

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PMID: 15469450
DOI: 10.1111/j.1468-1331.2004.00865.x

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