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

MR, (18)F-FDG, and (18)F-AV45 PET correlate with AD PSEN1 original phenotype.

Alzheimer disease and associated disorders - 1 Jan 2000

Saint-Aubert Laure, Payoux Pierre, Hannequin Didier, Barbeau Emmanuel J, Campion Dominique, Delisle Marie-Bernadette, Tafani Mathieu, Viallard Gérard, Péran Patrice, Puel Michèle, Chollet François, Demonet Jean-François, Pariente Jérémie

Abstract excerpt

We report the case of a 37-year-old man suffering from insidious visual agnosia and spastic paraparesis due to a PSEN1 mutation. His mother was diagnosed with Alzheimer disease after a biopsy. He was assessed by multimodal neuroimaging, including new in vivo positron emission tomography amyloid imaging (F-AV45). His data were compared with those from healthy participants and patients with sporadic predemential...

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 Aniline Compounds

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorodeoxyglucose F18

Share to Phenotype

Share to Positron-Emission Tomography

Share to Presenilin-1

Share to Radiopharmaceuticals

Source

Identifiers

PMID: 22517194
DOI: 10.1097/WAD.0b013e318251d87c

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MR, (18)F-FDG, and (18)F-AV45 PET correlate with AD PSEN1 original phenotype.PMID 22517194Read ↗

Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.Semantic proximity Read ↗

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

PET/MRI Delivers Multimodal Brain Signature in Alzheimer's Disease with De Novo PSEN1 Mutation.Semantic proximity Read ↗

Probable Novel APP Met671Leu Mutation in a Chinese Han Family with Early-Onset Alzheimer’s DiseaseSemantic proximity Read ↗

[18F]AV‐1451 PET in behavioral variant frontotemporal dementia due to MAPT mutationSemantic proximity Read ↗

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

Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and PSEN1 mutations.Semantic proximity Read ↗

Association Between Amyloid and Tau Accumulation in Young Adults With Autosomal Dominant Alzheimer Disease.Semantic proximity Read ↗

18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers.Semantic proximity Read ↗

New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonismSemantic proximity Read ↗

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

18F-florbetapir PET in patients with frontotemporal dementia and Alzheimer disease.Semantic proximity Read ↗

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