Familial Alzheimer’s disease sustained by presenilin 2 mutations: Systematic review of literature and genotype-phenotype correlation.
Canevelli M, Piscopo P, Talarico G, Vanacore N, Blasimme A, Crestini A, Tosto G, Troili F, Lenzi GL, Confaloni A, Bruno G.
Neurosci Biobehav Rev. 2014
Thapsigargin affects presenilin-2 but not presenilin-1 regulation in SK-N-BE cells.
Rivabene R, Visentin S, Piscopo P, Nuccio CD, Crestini A, Svetoni F, Rosa P, Confaloni A.
Exp Biol Med. 2014; 239 (2):213-24.
Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation.
Galimberti D, Fenoglio C, Serpente M, Villa C, Bonsi R, Arighi A, Fumagalli GG, Del Bo R, Bruni AC, Anfossi M, Clodomiro A, Cupidi C, Nacmias B, Sorbi S, Piaceri I, Bagnoli S, Bessi V, Marcone A, Cerami C, Cappa SF, Filippi M, Agosta F, Magnani G, Comi G, Franceschi M, Rainero I, Giordana MT, Rubino E, Ferrero P, Rogaeva E, Xi Z, Confaloni A, Piscopo P, Bruno G, Talarico G, Cagnin A, Clerici F, Dell’Osso B, Comi GP, Altamura AC, Mariani C, Scarpini E.
Biol Psychiatry. 2013;74 (5) :384-91.
Gender differences in Parkinson’s disease: focus on plasma α-synuclein.
Caranci G, Piscopo P, Rivabene R, Traficante A, Riozzi B, Castellano AE, Ruggieri S, Vanacore N, Confaloni A.
J Neural Transm. 2013;120 (8): 1209-15.
Pharmacogenomics in Alzheimer’s disease: a genome-wide association study of response to cholinesterase inhibitors.
Martinelli-Boneschi F, Giacalone G, Magnani G, Biella G, Coppi E, Santangelo R, Brambilla P, Esposito F, Lupoli S, Clerici F, Benussi L, Ghidoni R, Galimberti D, Squitti R, Confaloni A, Bruno G, Pichler S, Mayhaus M, Riemenschneider M, Mariani C, Comi G, Scarpini E, Binetti G, Forloni G, Franceschi M, Albani D.
Neurobiol Aging.2013; 34 (6):1711.e7-13.
Gender effects on plasma PGRN levels in patients with Alzheimer’s disease: a preliminary study.
Piscopo P, Rivabene R, Galimberti D, Crestini A, Talarico G, Vanacore N, Scarpini E, Bruno G, Confaloni A.
J Alzheimers Dis. 2013; 35 (2): 313-8.
Sex effect on presenilins expression in post-natal rat brain.
Paola Piscopo, Sonia Canterini, Valentina Carletti, Paolo Rosa, Alessio Crestini, Maria Teresa Fiorenza, Annamaria Confaloni
Advances in Bioscience and Biotechnology, 2013,4,1086-1094.
Increased levels of acute-phase inflammatory proteins in plasma of patients with sporadic CJD.
Fratini F, Principe S, Puopolo M, Ladogana A, Poleggi A, Piscopo P, Bruno G, Castrechini S, Pascone R, Confaloni A, Minghetti L, Cardone F, Pocchiari M, Crescenzi M.
Neurology. 2012;79 (10):1012-8.
Replication Study to Confirm the Role of CYP2D6 Polymorphism rs1080985 on Donepezil Efficacy in Alzheimer’s Disease Patients.
Albani D, Boneschi FM, Biella G, Giacalone G, Lupoli S, Clerici F, Benussi L, Ghidoni R, Galimberti D, Squitti R, Mariani S, Confaloni A, Bruno G, Mariani C, Scarpini E, Binetti G, Magnani G, Franceschi M, Forloni G.
J Alzheimers Dis. 2012;30 (4) :745-9..
Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer’s disease case.
Piscopo P, Talarico G, Malvezzi-Campeggi L, Crestini A, Rivabene R, Gasparini M, Tosto G, Vanacore N, Lenzi GL, Bruno G, Confaloni A.
J Neurol. 2011;258 (11): 2043-7.
Altered oxidative stress profile in the cortex of mice fed an enriched branched-chain amino acids diet:possible link with amyotrophic lateral sclerosis?
Piscopo P, Crestini A, Adduci A, Ferrante A, Massari M, Popoli P, Vanacore N, Confaloni A.
J Neurosci Res. 2011; 89 (8):1276-83.
Rosuvastatin and thapsigargin modulate γ-secretase gene expression and APP processing in a human neuroglioma model.
Crestini A, Piscopo P, Iazeolla M, Albani D, Rivabene R, Forloni G, Confaloni A.
J Mol Neurosci. 2011;43 (3):461-9.
Hypoxia induces up-regulation of progranulin in neuroblastoma cell lines.
Piscopo P, Rivabene R, Adduci A, Mallozzi C, Malvezzi-Campeggi L, Crestini A, Confaloni A.
Neurochem Int. 2010; 57 (8): 893-8.
The London APP mutation (Val717Ile) associated with early shifting abilities and behavioral changes in two Italian families with early-onset Alzheimer’s disease.
Talarico G, Piscopo P, Gasparini M, Salati E, Pignatelli M, Pietracupa S, Malvezzi-Campeggi L, Crestini A, Boschi S, Lenzi GL, Confaloni A, Bruno G.
Dement Geriatr Cogn Disord. 2010;29 (6):484-90.
A novel mutation in the predicted TM3 domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer’s disease.
P. Piscopo, G. Talarico, A. Crestini, M. Gasparini, L. Malvezzi-Campeggi, E. Piacentini, G. L. Lenzi, G. Bruno and A. Confaloni.
J Alzheimers Dis. 2010;20 (1):43-7.
Gene Expression Profiles of APP and BACE1 in Tg SOD1G93A Cortical Cells.
O. Spadoni, A. Crestini, P. Piscopo, L. Malvezzi-Campeggi, I. Carunchio, M. Pieri, C. Zona, A. Confaloni.
Cell Mol Neurobiol (2009) 29:635–641
A Novel PSEN2 mutation associated with a peculiar phenotype.
P. Piscopo, G. Marcon, M.R. Piras, A Crestini, L. Malvezzi Campeggi, E. Deiana, R. Cherchi, F. Tanda, A. Deplano, N. Vanacore, F. Tagliavini, M. Pocchiari, G. Giaccone and A. Confaloni.
Neurology (2008);70 (17):1549-54.
Altered expression of cyclooxygenase-2, presenilins and oxygen radical scavenging enzymes in a rat model of global perinatal asphyxia.
Piscopo P, Bernardo A, Calamandrei G, Venerosi A, Valanzano A, Bianchi D, Confaloni A, Minghetti L.
Exp Neurol. (2008);209 (1):192-8;
gamma-Secretase is differentially modulated by alterations of homocysteine cycle in neuroblastoma and glioblastoma cells.
Fuso A, Cavallaro RA, Zampelli A, D’Anselmi F, Piscopo P, Confaloni A, Scarpa S.
J Alzheimers Dis. (2007);11(3):275-90.
Presenilin-1 mutation E318G and familial Alzheimer’s disease in the Italian population.
Albani D, Roiter I, Artuso V, Batelli S, Prato F, Pesaresi M, Galimberti D, Scarpini E, Bruni A, Franceschi M, Piras MR, Confaloni A, Forloni G.
Neurobiol Aging. (2007);28 (11):1682-8.
Changes in cholesterol metabolism are associated with Presenilin 1 and Presenilin 2 gene regulation in SK-N-BE.
Crestini A, Napolitano M, Piscopo P, Confaloni A, Bravo E.
J Mol Neurosci. (2006);30 (3):311-22.
Cognitive deficits in familial Alzheimer’s disease associated with M239V mutation of presenilin 2.
Giovagnoli AR, Marcon G, Giaccone G, Confaloni A, Tagliavini F.
Dement Geriatr Cogn Disord. (2006);22 (3):238-43.
Genetic study of Sardinian patients with Alzheimer’s disease.
Piscopo P, Manfredi A, Malvezzi-Campeggi L, Crestini A, Spadoni O, Cherchi R, Deiana E, Piras MR, Confaloni A.
Neurosci Lett. (2006); 398 (1-2):124-8.
PEN-2 gene mutation in a familial Alzheimer’s disease case.
Sala Frigerio C, Piscopo P, Calabrese E, Crestini A, Malvezzi Campeggi L, Civita di Fava R, Fogliarino S, Albani D, Marcon G, Cherchi R, Piras R, Forloni G, Confaloni A.
J Neurol.(2005); 252 (9):1033-6.
Rat nicastrin gene: cDNA isolation, mRNA variants and expression pattern analysis.
Confaloni A, Crestini A, Albani D, Piscopo P, Malvezzi Campeggi L, Terreni L, Tartaglia M, Forloni G.
Brain Res Mol Brain Res. (2005);136 (1-2): 12-22.
May 2014 - Alanonlus
Questa guida realizzata dall’Ipab Isma contiene tutte le informazioni sulle strutture e i servizi di cura e di assistenza presenti sul territorio regionale rivolte ai malati di Alzheimer.Download
People with dementia and their caregivers have a new online resource with the launch of the ASANT CafŽ Wednesday. “The ASANT Cafe is an online gathering place. It’s particularly relevant to people living in rural areas who can then go online and have a place to discuss issues around Alzheimer’s disease and related dementias,” said Brenda Hill, manager of client services and programs for the Lethbridge branch of the Alzheimer Society of Alberta and Northwest Territories. The Alzheimer Society has a training program called Seeds of Hope and all training sessions are on the website. The training is suitable for professionals and caregivers. “It reinforces the training around Alzheimer’s disease person-centred care,” Hill said. The ASANT CafŽ also provides information on the disease and its progression and contact information. The society’s First Link program allows people to connect to support, get referrals to health-care providers and community services, meet others in similar circumstances, and get help to plan for the future. “It’s all part of connecting people with Alzheimer’s disease and their families and caregivers to accurate information and to other people who are going through the disease process and requiring assistance on many levels,” Hill said. “We do referrals to many of the care providers in our region.”
The website also offers discussion boards and a place to ask questions so people can find support in a virtual community. “Support is a big part of the site and we certainly notice here in southern Alberta where people are isolated in smaller areas,” she said. ASANT Cafè is funded by Alberta Health and is designed to provide a resource for anyone who’s life is touched by dementia, regardless of where they live in Alberta. The website offers the best that technology currently offers.
Published by Alzheimer’s Disease International (ADI), London, February 2014
Prepared by Professor Martin Prince, Professor Emiliano Albanese, Dr Maëlenn Guerchet and Dr Matthew Prina for the Global Observatory for Ageing and Dementia Care, King’s College London. They have reviewed a number of areas in existing research regarding the relevance of nutritional factors to primary and secondary prevention of dementia, undernutrition in dementia and interventions to improve the nutrition of people living with dementia.Download
Alzheimer’s disease is the sixth leading cause of death in the US, affecting more than 5 million Americans. But researchers from the Mayo Clinic in Florida say they have identified a subtype of the disease that is often misdiagnosed.
The research team, led by Dr. Melissa Murray, an assistant professor of neuroscience at the Mayo Clinic, says their study suggests that around 600,000 Americans may have this variant, which they call “hippocampal sparing” Alzheimer’s disease.
To reach their findings, recently presented at the American Academy of Neurology’s Annual Meeting in Philadelphia, PA, they analyzed 1,821 brains with confirmed Alzheimer’s disease.
All subtypes of Alzheimer’s have two specific hallmarks in the brain. Amyloid beta is responsible for the formation of brain plaques, while tau produces tangles in the brain.
In order to classify each subtype, the team used tangle counts to create a mathematical algorithm. They found that while all Alzheimer’s subtypes had the same amount of amyloid beta, the hippocampal sparing variant showed tau tangles in unequal areas of the hippocampus.
They discovered that in patients with this subtype, tau specifically damages neurons in areas of the brain associated with behavior, motor recognition and awareness, and use of speech and vision.
‘Alzheimer’s disease does not necessarily equate to loss of memory’
Hippocampal sparing Alzheimer’s was identified in 11% of patients. They define the variant as a form of the disease that appears to have minimal impact on memory.
Instead, the condition appears to cause behavioral problems, such as uncontrollable and frequent outbursts of anger. The disorder may also trigger the feeling that the patient’s limbs do not belong to them and that movements are controlled by an “alien” force. Furthermore, it can cause visual interruption and language problems.
From their research, the investigators found that hippocampal sparing Alzheimer’s appears to be more common in males, with onset occurring at a much younger age than traditional Alzheimer’s. In addition, patients with this subtype seem to deteriorate more rapidly.
Dr. Murray further explains the findings in the video below:
At the inaugural meeting, new members of The World Dementia Council have today (Thursday 1 May 2014) announced how they plan to support Dennis Gillings in tackling dementia globally.
Following on from the pledge made at the G8 dementia summit in December, the 13-member Council, appointed by the World Dementia Envoy, acknowledged that dementia research is not currently delivering the results we need. The Council have proposed radical but practical plans to change this, working with governments, regulators and industry.
With 44.4 million people living with dementia worldwide and an estimated global cost of $604 billion in 2010, the urgent need for global action is clear. To this end the Council recognises the need to remove barriers to innovation, improve investment conditions and most importantly, encourage new research into dementia globally.