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Neurosci Biobehav Rev. 2014 May;42:170-9. doi: 10.1016/j.neubiorev.2014.02.010. Epub 2014 Mar 2.

Familial Alzheimer's disease sustained by presenilin 2 mutations: systematic review of literature and genotype-phenotype correlation.

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Memory Clinic, Department of Neurology and Psychiatry, University "Sapienza", Rome, Italy. Electronic address:
Department of Cell Biology and Neurosciences, National Institute of Health, Rome, Italy.
Memory Clinic, Department of Neurology and Psychiatry, University "Sapienza", Rome, Italy.
Epidemiology Center, National Institute of Health, Rome, Italy.
INSERM UMR 1027, Faculté de Médecine, Université Paul Sabatier - Toulouse III, Toulouse, France.


Familial Alzheimer's disease (FAD), despite representing a rare condition, is attracting a growing interest in the scientific community. Improved phenotyping of FAD cases may have a relevant impact both in clinical and research contexts. We performed a systematic review of studies describing the phenotypic features of FAD cases sustained by PSEN2 mutations, the less common cause of monogenic AD. Special attention was given to the clinical manifestations as well as to the main findings coming from the most commonly and widely adopted diagnostic procedures. Basing on the collected data, we also attempted to conduct a genotype-phenotype correlation analysis. Overall, the mutations involving the PSEN2 gene represent an extremely rare cause of FAD, having been reported to date in less than 200 cases. They are mainly associated, despite some peculiar and heterogeneous features, to a typical AD phenotype. Nevertheless, the frequent occurrence of psychotic symptoms may represent a potential distinctive element. The scarcity of available phenotypic descriptions strongly limits the implementation of genotype-phenotype correlations.


Alzheimer's disease; Familial Alzheimer's disease; Genetics of dementia; Genotype–phenotype correlation; Phenotyping; Presenilin 2

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