Affiliations: [a]
Department of Neuroscience, Imaging and Clinical Sciences, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy
| [b]
CAST – Center for Advanced Studies and Technology, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy
| [c] Nuclear Medicine Unit, Ospedale Santo Spirito, Pescara, Italy
| [d]
Department of Medicine and Aging Sciences, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy
| [e]
ITAB – Institute for Advanced Biomedical Technologies, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy
Correspondence:
[*]
Correspondence to: Prof. Stefano L. Sensi, Chair of the Department of Neurosciences, Imaging and Clinical Sciences, “G. d’Annunzio” University of Chieti-Pescara, Italy. Tel.: +39 0871 541557; E-mail: [email protected].
Abstract: A 43-year-old came to our observation for progressive cognitive impairment, confirmed by the neuropsychological evaluation. A diagnosis of multidomain amnestic mild cognitive impairment, due to unknown reasons, was posited at the first assessment. The patient’s neurological exam was otherwise completely normal. The patient’s mother was clinically diagnosed with frontotemporal dementia in her forties. The patient underwent neuroimaging investigations and cerebrospinal fluid analysis. Our diagnostic work-up pointed toward a neurodegenerative etiology, but the presence of concurrent cardiomyopathy emerged in the meantime. Due to the patient’s family history, a thorough genetic screening was performed. The results revealed a unique genetic asset, with heterozygotic variants of three amyloid-related genes (PSEN1, APP, and MYBPC3). PSEN1 and MYBPC3 mutations showed distinct pathogenic features and accounted for the patient’s brain and cardiac amyloidosis, whereas the APP variant was of uncertain pathological implications.
Keywords: cardiomyopathy, early onset dementia, mild cognitive impairment, neurodegeneration
