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Results from a pilot study on amiodarone administration in monogenic frontotemporal dementia with granulin mutation
Alberici, A.,
Archetti, S.,
Pilotto, A.,
Premi, E.,
Cosseddu, M.,
Bianchetti, A.,
Semeraro, F.,
Salvetti, M.,
Muiesan, M. L.,
Padovani, A.,
Borroni, B.
Frontotemporal dementia (FTD) is one of the most important neurodegenerative conditions and Granulin (GRN) is one of the major genes associated to the disease. FTD-GRN patients are still orphan for any evidence-based target-therapy approach. Interestingly, it has been recently found that alkalizing agents rescued haploinsufficiency in cellular models expressing FTD-GRN mutations. We set up a […]
Replication study to confirm the role of CYP2D6 polymorphism rs1080985 on donepezil efficacy in Alzheimer’s disease patients
Albani, Diego,
Martinelli Boneschi, Filippo,
Biella, Gloria,
Giacalone, Giacomo,
Lupoli, Sara,
Clerici, Francesca,
Benussi, Luisa,
Ghidoni, Roberta,
Galimberti, Daniela,
Squitti, Rosanna,
Mariani, Stefania,
Confaloni, Annamaria,
Bruno, Giuseppe,
Mariani, Claudio,
Scarpini, Elio,
Binetti, Giuliano,
Magnani, Giuseppe,
Franceschi, Massimo,
Forloni, Gianluigi
Alzheimer’s disease (AD) is a neurodegenerative disorder often treated with donepezil, an acetylcholinesterase inhibitor. Response to donepezil is variable, probably based on patients’ genetic background in donepezil metabolizing enzymes, including cytochrome 2D6 (CYP2D6). We evaluated the association between clinical response to donepezil and a common variant (rs1080985) of CYP2D6, previously reported to be associated with […]
Cognitive dysfunction in SLE: development of a screening tool
Background: Cognitive dysfunction (CD) is among the most common neuropsychiatric manifestations of systemic lupus erythematosus (SLE). There are two methods which have been used to detect CD in patients with SLE: traditional neuropsychological tests (NPT) and the Automated Neuropsychological Assessment Metrics (ANAM). Both are time-consuming and neither is readily available for screening purposes.; Purpose: The […]