Gerstmann-Straussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.

ABSTRACT:

Background

Genetic prion diseases, including Gerstmann-Sträussler-Scheinker disease (GSS), are extremely rare, fatal neurodegenerative disorders, often associated with progressive ataxia and cognitive/neuropsychiatric symptoms. GSS typically presents as a rapidly progressive cerebellar ataxia, associated with cognitive decline. Late-onset cases are rare.

Objective

To compare a novel GSS phenotype with six other cases and present pathological findings from a single case.

Methods

Case series of seven GSS patients, one proceeding to autopsy.

Results

Case 1 developed slowly progressive gait difficulties at age 71, mimicking a spinocerebellar ataxia, with a family history of balance problems in old age. Genome sequencing revealed a heterozygous c.392G > A (p.G131E)

SUBMITTER: Stephen CD 

PROVIDER: S-EPMC10982592 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature