Affiliations: [a] Department of Neurological, Neuropsychological, Morphological and Movement Sciences, Section of Neuropathology, University of Verona, Verona, Italy | [b] Department of Neurosciences SNPSRR, University of Padova, Padova, Italy | [c] IRCCS San Camillo Hospital Foundation, Venice, Italy
Correspondence:
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Correspondence to: Annachiara Cagnin, Department of Neurosciences: SNPSRR, Via Giustiniani 5, 35128 Padova, Italy. Tel.: +39 049 8213601; Fax: +39 049 8751770; E-mail: [email protected].
Abstract: Mutations in the Presenilin 2 gene (PSEN2) represent the less frequent genetic cause of familial Alzheimer's disease (FAD). Only eight PSEN2 mutations, reported in approximately 27 families, satisfied strict criteria of pathogenicity. We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss. Brain SPECT study showed an early hypoperfusion of the frontal cortex. We confirmed the pathogenicity of PSEN2 p.Met239Ile mutation and its heterogeneous phenotypic expression. The modulating effect of the Apolipoprotein E and Prion Protein gene polymorphisms on the phenotypic variability was not confirmed.
