Cognitive Decline: Not Always Alzheimer's Disease

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.