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

Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.

BMC neurology - 12 Jan 2021

Picillo Marina, Scannapieco Sara, Iavarone Alessandro, Ginevrino Monia, Valente Enza Maria, Barone Paolo

Abstract excerpt

BACKGROUND: Glucocerebrosidase (GBA) heterozygous variants are the most important genetic risk factor for the development of alpha-synucleinopathies (i.e., Parkinson's disease and Dementia with Lewy Bodies). Herein, we report for the first time on a patient with a clinical diagnosis of Posterior Cortical Atrophy, carrier of the common GBA heterozygous variant N370S (c.1226A > G). CASE PRESENTATION: A 44-year-old...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Atrophy
Share to Glucosylceramidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Mutation

Share to Neurodegenerative Diseases

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 33435912
DOI: 10.1186/s12883-020-02023-5
PMCID: PMC7802182

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

Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.PMID 33435912Read ↗

Glucocerebrosidase mutations in primary parkinsonism.Semantic proximity Read ↗

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.Semantic proximity Read ↗

Exploring the link between GBA1 mutations and Dementia with Lewy bodies, A mini-review.Semantic proximity Read ↗

Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.Semantic proximity Read ↗

The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art.Semantic proximity Read ↗

A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review.Semantic proximity Read ↗

GBA-associated parkinsonism and dementia: beyond α-synucleinopathies?Semantic proximity Read ↗

Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study.Semantic proximity Read ↗

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.Semantic proximity Read ↗

GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.Semantic proximity Read ↗

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.Semantic proximity Read ↗

Quantitative biochemical profiling of GCase activity and α-synuclein proteoforms in postmortem human brains from GBA-related and idiopathic Parkinson’s diseaseSemantic proximity Read ↗

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