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A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

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Published on: October 13, 2023

Gerstmann-Sträussler-Scheinker disease: A case report.

Ming-Ming Zhao¹, Liang-Shu Feng¹, Shuai Hou¹

¹Department of Neurology and Neuroscience Center, the First Hospital of Jilin University, Changchun 130021, Jilin Province, China.

World Journal of Clinical Cases

|February 13, 2019

Summary

Gerstmann-Sträussler-Scheinker (GSS) disease, a rare inherited prion disease, can be diagnosed early with genetic testing. Prompt diagnosis of GSS is crucial for managing progressive cerebellar ataxia.

Keywords:

Brain Case report Cerebellar ataxia Diagnosis Magnetic resonance imaging Prion disease

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Area of Science:

Neurology
Genetics
Prion Diseases

Background:

Gerstmann-Sträussler-Scheinker (GSS) disease is a rare inherited prion disease.
Characterized by progressive cerebellar ataxia, GSS is particularly underdiagnosed in China due to its rarity.
Clinical presentation can mimic other ataxia-causing conditions, leading to misdiagnosis.

Observation:

A case of genetically diagnosed GSS disease in Northeast China is presented.
The patient displayed ataxia and dysarthria, but initial brain imaging and spinocerebellar ataxia gene screening were normal.
Expanded genetic screening identified the GSS diagnosis.

Findings:

GSS diagnosis was confirmed through expanded genetic screening.
Over a 3.5-year follow-up, the patient developed imaging abnormalities, decorticate posturing, and convulsions.
Oral sodium valproate effectively managed the convulsions.

Implications:

Genetic testing for GSS should be considered early in patients with inherited ataxia.
This case highlights the importance of comprehensive genetic screening for rare neurological disorders.
Early GSS diagnosis can facilitate timely management and potentially improve patient outcomes.