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Atypical dementia associated with a novel presenilin‐2 mutation
Author(s) -
Binetti Giuliano,
Signorini Simona,
Squitti Rosanna,
Alberici Antonella,
Benussi Luisa,
Cassetta Emanuele,
Battista Frisoni Giovanni,
Barbiero Laura,
Feudatari Enrica,
Nicosia Francesca,
Testa Cristina,
Zanetti Orazio,
Gennarelli Massimo,
Perani Daniela,
Anchisi Davide,
Ghidoni Roberta,
Rossini Paolo Maria
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10760
Subject(s) - dementia , presenilin , disease , neuroimaging , family history , mutation , alzheimer's disease , medicine , psen1 , psychology , genetics , biology , pathology , psychiatry , gene
We describe an Italian pedigree with hereditary dementia associated with a novel T122R mutation in the presenilin‐2 gene (PSEN2) . The clinical history, symptom presentation, and structural neuroimaging were consistent with an atypical form of dementia. Disease expression varied within family members. One in a pair of mutated monozygotic twins had evident signs of disease, whereas the other did not, even if her functional neuroimaging investigations, cerebrospinal fluid levels of Aβ1‐42, and Tau protein were able to provide markers for future disease development. These observations suggest the importance of still unknown biological and perhaps environmental factors in the disease determination.