Istituto di Informatica e Telematica     
Guarasci R., Taverniti M., Cupidi C., Borrello L., Laganą V., Anfossi M., Conidi M. E., Smirne N., Bruni A. C. Angela R.: a familial Alzheimer's disease case in the days of Auguste D. In: Journal of Neurology, vol. 263 (12) pp. 2494 - 2498. Spinger Link, 2016.
The rebuilding of the N family, a large Italiankindred affected by early-onset autosomal dominant Alzheimer?sdisease (AD), provided an important contributionto the discovery of Presenilin 1 (PSEN1), the main generesponsible for familial AD. This pedigree was identifiedwith the help of medical records from the archives of thePsychiatric Hospital of Girifalco, Italy. The clinical recordof Angela R., an ancestor of the N family, dating back to1904, showed a clinical picture of Angela R., consistentwith a diagnosis of non-amnestic probable AD, matchingthe ??dysexecutive?? phenotype described in her descendants.The a posteriori diagnosis of AD is supported by theevidence of the causative genetic mutation PSEN1-Met146Leu as well as neuropathological AD features inher genealogically proven descendants. The clinical case ofAngela R. was recorded at the same time of Alzheimer?sdescription of Auguste D. Its discovery crucially contributedto the genealogical reconstruction of the N family,linking came from different branches, which until thenwere unrelated, to the same kindred. The archives of theGirifalco Hospital represented a valuable source of medicaland historical information and were essential to the research on Italian-American AD families that finally led tothe identification of new genes.
URL: http://link.springer.com/article/10.1007/s00415-016-8294-x
DOI: 10.1007/s00415-016-8294-x
Subject Presenilin 1
History of neurology
Alzheimer?s disease
J.3 LIFE AND MEDICAL SCIENCES: Biology and genetics

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