Atypical dementia associated with a novel presenilin-2 mutation
| Autor: | Luisa Benussi, Cristina Testa, Davide Anchisi, Daniela Perani, Simona Signorini, Emanuele Cassetta, Francesca Nicosia, Giuliano Binetti, Giovanni B. Frisoni, Enrica Feudatari, Antonella Alberici, Paolo Maria Rossini, Orazio Zanetti, Massimo Gennarelli, Roberta Ghidoni, Rosanna Squitti, Laura Barbiero |
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| Přispěvatelé: | Binetti, G, Signorini, S, Squitti, R, Alberici, A, Benussi, L, Cassetta, E, Frisoni, Gb, Barbiero, L, Feudatari, E, Nicosia, F, Testa, C, Zanetti, O, Gennarelli, M, Perani, DANIELA FELICITA L., Anchisi, D, Ghidoni, R, Rossini, Pm |
| Jazyk: | angličtina |
| Rok vydání: | 2003 |
| Předmět: |
Male
Pathology medicine.medical_specialty Tau protein Disease Bioinformatics Presenilin Neuroimaging Functional neuroimaging mental disorders PSEN2 Presenilin-2 medicine Dementia Humans Aged biology Presenilin-2mutation Brain Membrane Proteins Middle Aged medicine.disease Pedigree PET Neurology Mutation (genetic algorithm) Mutation biology.protein Female Neurology (clinical) Psychology biological markers |
| Zdroj: | Annals of neurology 54(6) (2003): 832–836. info:cnr-pdr/source/autori:Binetti G. 1, Signorini S. 1, Squitti R. 2, Alberici A. 1, Benussi L. 1, Cassetta E. 2, Frisoni G.B. 3, Barbiero L. 1, Feudatari E. 1, Nicosia F. 1, Testa C. 3, Zanetti O. 1, Gennarelli M. 4, Perani D. 5, Anchisi 6, Ghidoni R. 1, Rossini P.M. 2 7/titolo:Atypical dementia associated with a novel presenilin-2 mutation./doi:/rivista:Annals of neurology/anno:2003/pagina_da:832/pagina_a:836/intervallo_pagine:832–836/volume:54(6) |
| Popis: | 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 Abeta1-42, 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. |
| Databáze: | OpenAIRE |
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