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

Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation.

Journal of Alzheimer's disease : JAD - 1 Jan 2022

Libard Sylwia, Giedraitis Vilmantas, Kilander Lena, Ingelsson Martin, Alafuzoff Irina

Abstract excerpt

BACKGROUND: There are more than 300 presenilin-1 (PSEN1) mutations identified but a thorough postmortem neuropathological assessment of the mutation carriers is seldom performed. OBJECTIVE: To assess neuropathological changes (NC) in a 73-year-old subject with the novel PSEN1 G206R mutation suffering from cognitive decline in over 20 years. To compare these findings with an age- and gender-matched subject with...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Alzheimer Disease
Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Presenilin-1

Source

Open in PubMed Open full text

Identifiers

PMID: 36314207
DOI: 10.3233/JAD-220655
PMCID: PMC9789486

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation.PMID 36314207Read ↗

A novel PSEN1 (S230N) mutation causing early-onset Alzheimer's Disease associated with prosopagnosia, hoarding, and Parkinsonism.Semantic proximity Read ↗

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

Are comorbidities compatible with a molecular pathological classification of neurodegenerative diseases?Semantic proximity Read ↗

PSEN2 Mutations May Mimic Frontotemporal Dementia: Two New Case Reports and a Systematic ReviewSemantic proximity Read ↗

Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease.Semantic proximity Read ↗

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

Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.Semantic proximity Read ↗

The presenilin 1 mutation P436S causes familial Alzheimer’s disease with elevated Aβ43 and atypical clinical manifestationsSemantic proximity Read ↗

[The complexes of degenerative dementias: an evolution from disease to spectrum].Semantic proximity Read ↗

Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation.Semantic proximity Read ↗

Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy.Semantic proximity Read ↗

Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings.Semantic proximity Read ↗

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