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Cognitive Decline: Not Always Alzheimer's Disease
Noel Lorenzo Villalba1, Stephane Laboulbene2, Tawoufik Merzouki2
1Service de Médecine Interne, Centre Hospitalier Chrétien, Belgique.
Journal of Alzheimer'S Disease Reports
|November 28, 2018
Summary
Gerstmann-Sträussler-Scheinker syndrome, a rare genetic prion disease, was diagnosed in a 66-year-old woman presenting with cognitive decline. Despite negative 14.3.3 protein tests, genetic analysis confirmed the rare neurological disorder.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare, inherited prion disease.
- It is characterized by progressive neurological decline, including cognitive impairment.
- Distinguishing GSS from other prion diseases can be challenging.
Purpose of the Study:
- To report a case of Gerstmann-Sträussler-Scheinker syndrome.
- To highlight the diagnostic process for GSS, particularly when initial tests are inconclusive.
- To emphasize the importance of genetic investigation in suspected prion diseases.
Main Methods:
- Clinical presentation of a 66-year-old woman with cognitive decline.
- Magnetic Resonance Imaging (MRI) revealing bi-frontotemporal atrophy.
- Cerebrospinal fluid (CSF) analysis for 14.3.3 protein (negative).
- Electroencephalogram (EEG) findings (irrelevant).
- Family history interview leading to genetic testing.
Main Results:
- The patient exhibited slowly progressive cognitive decline.
- MRI showed characteristic bi-frontotemporal atrophy.
- Absence of 14.3.3 protein in CSF, a common marker for Creutzfeldt-Jakob disease.
- Genetic analysis confirmed the diagnosis of Gerstmann-Sträussler-Scheinker syndrome.
Conclusions:
- Gerstmann-Sträussler-Scheinker syndrome can present with cognitive decline and frontotemporal atrophy.
- Negative 14.3.3 protein in CSF does not rule out prion diseases, necessitating further investigation.
- Genetic testing is crucial for diagnosing inherited prion diseases like GSS.