PMC10259045_01
A) Patient's family tree, with known cases of dementia blacked and deceased barred; the arrow points to the proband. B) Sanger sequencing confirmed the heterozygous c.1301 C>T variant.
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The family history revealed the presence of presenile dementia, as the patient's mother died with severe dementia at the age of 59 years after a clinical history of approximately eight years (Fig. 1A). NGS sequencing of 25 dementia-associated genes identified the c.1301 C>T p.(Ala434Val) variant in the exon 12 of the Presenilin-1 (PSEN1; NM_000021.4) gene, confirmed by Sanger sequencing (Fig. 1B).
Neuroimaging findings. From left to right: CT, FDG-PET, and Amyloid PET with flutemetamol of the patient consistent with the diagnosis of PCA due to AD.
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Table 1 and Fig. 2 show the main findings of the investigations conducted.