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Episodic memory loss could be the presentation of progranulin mutation cases.

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).

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.

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The following have contributed to this page:
Ernesto García-Roldán
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