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A prion disease--possible Gerstmann-Straussler-Scheinker disease: a case report
Ayse Aralasmak1, Barbara J Crain, Wen-Quan Zou
1Russell H. Morgan Department of Radiology and Radiological Science, Division of Neuroradiology, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA. aysearalasmak@hotmail.com
Journal of Computer Assisted Tomography
|December 21, 2005
Summary
Gerstmann-Straussler-Scheinker disease, a rare prion disorder, was diagnosed in a patient with progressive cognitive and motor decline. Brain biopsy revealed the characteristic protease-resistant prion protein fragment, confirming the diagnosis.
Area of Science:
- Neuroscience
- Neuropathology
- Prion Diseases
Background:
- Gerstmann-Straussler-Scheinker disease (GSS) is a rare, inherited prionopathy characterized by progressive neurological decline.
- Clinical presentation can vary, often including ataxia, dementia, and motor deficits, typically without myoclonus.
- Diagnostic challenges exist due to overlapping symptoms with other neurodegenerative disorders.
Observation:
- A 50-year-old patient presented with a 6-month history of progressive cognitive and motor disability.
- Neurological examination revealed no myoclonic jerks, and electroencephalography showed no periodic sharp waves.
- Brain imaging demonstrated T2-weighted hyperintensities in the basal ganglia and posterior internal capsules, without restricted diffusion or volume loss.
Findings:
- A brain biopsy was performed for definitive diagnosis.
- Western blot analysis identified a protease-resistant prion protein fragment (PrP7-8).
- The presence of PrP7-8 is the molecular hallmark confirming Gerstmann-Straussler-Scheinker disease.
Implications:
- This case highlights the importance of considering GSS in patients with progressive neurological deficits, even without typical EEG findings.
- Molecular confirmation via prion protein analysis is crucial for accurate diagnosis of GSS.
- Understanding the molecular pathology of GSS aids in differentiating it from other prion and neurodegenerative diseases.
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