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Angela R.: a familial Alzheimer’s disease case in the days of Auguste D.

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.

Journal of Neurology, 2016

Autori esterni: Chiara Cupidi (Centro Regionale di Neurogenetica, (CZ)), Laura Borrello (Centro Regionale di Neurogenetica, (CZ)), Valentina Laganà (Centro Regionale di Neurogenetica, (CZ)), Maria Anfossi (Centro Regionale di Neurogenetica, (CZ)), Maria Elena Conidi (Centro Regionale di Neurogenetica, (CZ)), Nicoletta Smirne (Centro Regionale di Neurogenetica, (CZ)), Amalia Cecilia Bruni (Centro Regionale di Neurogenetica, (CZ))
Autori IIT:

Roberto Guarasci

Foto di Roberto Guarasci

Tipo: Contributo in rivista ISI
Area di disciplina: Information Technology and Communication Systems
http://link.springer.com/article/10.1007/s00415-016-8294-x DOI 10.1007/s00415-016-8294-x Pubmed ID 27730373
File: Angela R._ a familial Alzheimer’s disea... the days of Auguste D.pdf
Da pagina 2494 a pagina 2498

Attività: ALPHA - eAsy inteLligent servi e Platform for Healthy Ageing