Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.

Neurology - 8 Oct 2002

O'Riordan S, McMonagle P, Janssen J C, Fox N C, Farrell M, Collinge J, Rossor M N, Hutchinson M

Abstract excerpt

The authors report unusual presentations of members of an Irish family with familial AD due to an E280G mutation in exon 8 of presenilin-1. One had spastic paraparesis and white matter abnormalities on cranial MRI. A sibling had an internuclear ophthalmoplegia, spastic-ataxic quadriparesis, and "cotton-wool plaques" with amyloid angiopathy on brain biopsy. Another affected sibling also had MRI white matter...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alzheimer Disease
Share to Amino Acid Substitution

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Membrane Proteins

Share to Mutation

Share to Paraparesis, Spastic

Share to Presenilin-1

Source

Identifiers

PMID: 12370477
DOI: 10.1212/wnl.59.7.1108

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.PMID 12370477Read ↗

Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization.Semantic proximity Read ↗

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

Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation.Semantic proximity Read ↗

Variant Alzheimer's disease with spastic paraparesis: clinical characterization.Semantic proximity Read ↗

Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype.Semantic proximity Read ↗

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.Semantic proximity Read ↗

A novel presenilin 1 mutation (Leu418Trp) associated with spasticity, parkinsonism, and white matter lesion in a dominant Alzheimer's family.Semantic proximity Read ↗

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesisSemantic proximity Read ↗

Clinical Association of White Matter Hyperintensities Localization in a Mexican Family with Spastic Paraparesis Carrying the PSEN1 A431E Mutation.Semantic proximity Read ↗

De Novo PS1 Mutation (Pro436Gln) in a Very Early-Onset Posterior Variant of Alzheimer's Disease Associated with Spasticity: A Case Report.Semantic proximity Read ↗

A Novel Presenilin 1 Mutation in Early-Onset Alzheimer's Disease With Prominent Frontal Features.Semantic proximity Read ↗

Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.