Gerstmann-Sträussler-Scheinker disease with A117V mutation in a second French-Alsatian family.

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

Back to search

Article

Gerstmann-Sträussler-Scheinker disease with A117V mutation in a second French-Alsatian family.

Clinical neuropathology - 1 Jan 2000

Heldt N, Boellaard J W, Brown P, Cervenákova L, Doerr-Schott J, Thomas C, Scherer C, Rohmer F

Abstract excerpt

We report a kindred of French/Alsatian origin with symptoms of Gerstmann-Sträussler-Scheinker disease over 3 generations. In the propositus, cerebellar signs and memory disturbance were the presenting features, followed by other neurological manifestations. Biopsy of the cerebral cortex showed nu...

Topics

Adult
Biopsy
Brain
DNA Mutational Analysis
Dementia
Diagnosis, Differential
France
Genotype
Gerstmann-Straussler-Scheinker Disease
Humans
Kuru
Male
Neurologic Examination
Neuropsychological Tests
Pedigree
Phenotype
Plaque, Amyloid
Prions

Source

Open in PubMed

Identifiers

PMID: 9707339

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9707339-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics