What is it about?
In this work, we describe the case of a 60-year-old patient with a two-year evolution of isolated memory loss. A complete examination, including neuropsychological studies, laboratory tests, brain magnetic resonance imaging (MRI), and cerebrospinal fluid (CSF) tests, including Alzheimer’s disease (AD) biomarkers, did not show remarkable results. Due to a family history of dementia, we extended the study to non-Alzheimer monogenic mutations detecting a pathogenic variant of the progranulin (PGRN) gene (c.1414-1G> T).
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Why is it important?
With this case report, we introduce the diagnostic possibility of progranulin mutation in cases with Alzheimer-like presentation, positive family history, and negativity for Alzheimer´s disease (AD) biomarkers.
Perspectives
From our point of view, this example highlights the importance of biomarkers in the diagnostic process of neurodegenerative diseases. Not only because our diagnosis will be more precise, but also because this could help us to deepen our knowledge of the pathophysiology of these diseases.
Ernesto García-Roldán
Instituto de Biomedicina de Sevilla (IBiS)
Read the Original
This page is a summary of: Episodic Memory Loss: When Alzheimer’s Disease Is Not the Answer, Journal of Alzheimer s Disease Reports, April 2024, IOS Press,
DOI: 10.3233/adr-240014.
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