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Published on: August 7, 2019
[Gerstmann-Sträussler-Scheinker disease].
E A Katunina1,2, I A Putyatin2, M B Dolgushin1
1Federal Center of Brain Research and Neurotechnologies, Moscow, Russia.
Summary
Gerstmann-Sträussler-Scheinker disease (GSSD), a rare prion disease, presents diagnostic challenges. Positron emission tomography identified metabolic brain changes before MRI, aiding early GSSD diagnosis.
Area of Science:
- Neuroscience
- Neurology
- Medical Imaging
Background:
- Prion diseases are rare, fatal neurodegenerative disorders.
- Gerstmann-Sträussler-Scheinker disease (GSSD) is a genetic prionopathy.
- Phenotypic heterogeneity complicates GSSD diagnosis.
Purpose of the Study:
- To present a clinical case of GSSD.
- To highlight the utility of 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) in early GSSD detection.
- To discuss diagnostic challenges and differential diagnosis.
Main Methods:
- Clinical case presentation.
- Positron emission tomography (PET) with 18F-fluorodeoxyglucose.
- Magnetic resonance imaging (MRI).
Main Results:
- A patient with GSSD presented with cerebellar ataxia and cognitive/behavioral issues.
- FDG-PET revealed metabolic abnormalities in the basal ganglia and cerebellum.
- These metabolic changes preceded apparent MRI alterations and clinical symptoms.
Conclusions:
- FDG-PET can detect early metabolic changes in GSSD.
- Considering prion diseases is crucial for differential diagnosis of cerebellar and cognitive disorders.
- Early diagnosis aids in managing GSSD and related prionopathies.
Keywords:
Gerstmann—Sträussler—Scheinker diseasePRNP geneneurodegenerative diseasespositron emission tomographyprion diseasesMore Related Videos
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