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Article

Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease.

Journal of medical genetics - 1 Feb 2002

Jacquemont M L, Campion D, Hahn V, Tallaksen C, Frebourg T, Brice A, Durr A

Abstract excerpt

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Topics

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Share to Alzheimer Disease
Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Paraparesis, Spastic

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Source

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Identifiers

PMID: 11836371
DOI: 10.1136/jmg.39.2.e2
PMCID: PMC1735046

Genes

PSEN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease.PMID 11836371Read ↗

Variant Alzheimer disease with spastic paraparesis: a rare presenilin-1 mutation.Semantic proximity Read ↗

[Early-onset familial Alzheimer's disease with spastic paraparesis associated with PSEN1 gene].Semantic proximity Read ↗

Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.Semantic proximity Read ↗

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.Semantic proximity Read ↗

Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis.Semantic proximity Read ↗

Differential effects of PSEN1 mutations (p.P117L with ataxia and p.P264L without ataxia) in early-onset Alzheimer's disease.Semantic proximity Read ↗

Characterization of spastic paraplegia in a family with a novelPSEN1mutationSemantic proximity Read ↗

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.Semantic proximity Read ↗

Spastic paraparesis linked to a rare presenilin-1 mutation.Semantic proximity Read ↗

A Novel Presenilin-1 Mutation (Leu85Pro) in Early-Onset Alzheimer Disease With Spastic ParaparesisSemantic proximity Read ↗

Clinical picture of a patient with a novel PSEN1 mutation (L424V).Semantic proximity Read ↗

A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.Semantic proximity Read ↗

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