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Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.

Journal of Alzheimer's disease : JAD - 1 Jan 2013

Larner A J

Abstract excerpt

Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric features, parkinsonism, myoclonus, epileptic seizures, spastic paraparesis, frontal behavioral changes suggestive of the phenotype of frontotemporal dementia, aphasia, and cerebellar ataxia being described as well as cognitive decline. This...

Topics

Alzheimer Disease
Animals
Genotype
Humans
Phenotype
Presenilin-1

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 23948899
DOI: 10.3233/JAD-130746

Genes

PSEN1

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