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

A family with mental disorder as the first symptom finally confirmed with Gerstmann-Sträussler-Scheinker disease with P102L mutation in PRNP gene - case report.

Prion - 1 Dec 2023

Chen Zeran, Guo Junjun, Ran Ningjing, Zhong Yujia, Yang Fang, Sun Honghui

Abstract excerpt

Gerstmann-Sträussler-Scheinker (GSS) disease is an autosomal dominant neurodegenerative disease, and it is characterized by progressive cerebellar ataxia. Up to now, GSS cases with the p.P102L mutation have mainly been reported in Caucasian, but rarely in Asian populations. A 54-year-old female patient presented with an unstable gait in the hospital. Last year, she was unable to walk steadily and occasionally...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellar Ataxia
Share to Gerstmann-Straussler-Scheinker Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mental Disorders

Share to Mutation

Share to Neurodegenerative Diseases

Share to Prion Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 36847171
DOI: 10.1080/19336896.2023.2180255
PMCID: PMC9980613

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

A family with mental disorder as the first symptom finally confirmed with Gerstmann-Sträussler-Scheinker disease with P102L mutation in PRNP gene - case report.PMID 36847171Read ↗

A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene.Semantic proximity Read ↗

A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1.Semantic proximity Read ↗

Clinical features of Chinese patients with Gerstmann-Sträussler-Scheinker identified by targeted next-generation sequencing.Semantic proximity Read ↗

[Gerstmann-Sträussler disease: a familial case with common PRNP mutation and atypical features].Semantic proximity Read ↗

Gerstmann-Sträussler-Scheinker disease.Semantic proximity Read ↗

A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports.Semantic proximity Read ↗

A distinct phenotype of leg hyperreflexia in a Japanese family with Gerstmann-Sträussler-Scheinker syndrome (P102L).Semantic proximity Read ↗

First familial cases of P102L Gerstmann-Sträussler-Scheinker syndrome in South Korea: diffusion-weighted imaging might reflect intrafamilial phenotypic variability.Semantic proximity Read ↗

Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy.Semantic proximity Read ↗

Transmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan.Semantic proximity Read ↗

Psychotic-affective symptoms and multiple system atrophy expand phenotypes of spinocerebellar ataxia type 2.Semantic proximity Read ↗

Gerstmann-Straeussler-Scheinker disease with P102L prion protein gene mutation presenting with rapidly progressive clinical course.Semantic proximity Read ↗

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