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
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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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