Alzheimer's - Dementia, Author Interviews, Geriatrics, Mental Health Research / 24.04.2014

Ziad Nasreddine MD FRCP(C) Professeur adjoint Université de Sherbrooke et McGill University Neuro Rive-Sud/CEDRA: Centre Diagnostique et Recherche sur la Maladie d'Alzheimer Québec, CanadaMedicalResearch.com Interview with: Ziad Nasreddine MD FRCP(C) Professeur adjoint Université de Sherbrooke et McGill University Neuro Rive-Sud/CEDRA: Centre Diagnostique et Recherche sur la Maladie d'Alzheimer Québec, Canada MedicalResearch.com: What are the main findings of this study? Dr. Nasreddine: The Montreal Cognitive Assessment (MoCA) total score (MoCA-TS) and Memory Index Score (MoCA-MIS) are useful in predicting conversion to Alzheimer’s disease (AD) in individuals with mild cognitive impairment (MCI). Identifying individuals with MCI at high of conversion to Alzheimer’s disease is important clinically and for selecting appropriate subjects for therapeutic trials. (more…)
Alzheimer's - Dementia, Author Interviews, Cognitive Issues / 12.04.2014

Ioannis Tarnanas M.Sc Senior Researcher Gerontechnology and Rehabilitation Research Group, ARTORG Centre for Biomedical Engineering, University of Bern, 3010 Bern, SwitzerlandMedicalResearch.com Interview with: Ioannis Tarnanas M.Sc Senior Researcher Gerontechnology and Rehabilitation Research Group, ARTORG Centre for Biomedical Engineering, University of Bern, 3010 Bern, Switzerland MedicalResearch.com: What are the main findings of the study? Answer: We examined 75 healthy older people and 134 patients with mild cognitive impairment. Our aim was to collect neuropsychological, neurophysiological, neuroimaging and behavioural data by means of a virtual reality serious game, in order to model the profile of the patients who will progress to dementia within the next 2-4 years. We found that the prediction based on the performance at the virtual reality based computerized assessment instrument is comparable to that of more established and widely accepted biomarkers, such as ERP and MRI. This can be explained by the cognitive fidelity and richness of behavioural data collected with virtual reality based measures, which directly reflect neurocognitive processes affected at a very early stage. (more…)
Alzheimer's - Dementia, Author Interviews, Genetic Research, NIH / 10.04.2014

Prof. Dr. med. Piotr Lewczuk Head,Lab for Clinical Neurochemistry and Neurochemical Dementia Diagnostics, Universitätsklinikum Erlangen, Department of Psychiatry and Psychotherapy, 91054 Erlangen, GermanyMedicalResearch.com Interview with: Prof. Dr. med. Piotr Lewczuk Head,Lab for Clinical Neurochemistry and Neurochemical Dementia Diagnostics, Universitätsklinikum Erlangen, Department of Psychiatry and Psychotherapy, 91054 Erlangen, Germany MedicalResearch.com: What are the main findings of the study? Prof. Dr. med. Piotr Lewczuk: In our study, we investigated the concentrations of four isoforms of amyloid beta peptides in the blood of healthy young volunteers without memory complains. The participants were stratified into three groups according to their apolipoprotein E (APOE) genotype, which is the mostly investigated and generally accepted genetic risk factor for sporadic Alzheimer’s Disease (AD). It is known that the alterations of the amyloid beta metabolism are the earliest changes in the course of AD, occurring many years (or even decades) before the onset of the clinical symptoms, but it is actually not known how early these alterations start. Correspondingly, we wanted to investigate if healthy persons with genetic risk factor show changes in their amyloid beta metabolism already 30-40 years before the age when AD is usually diagnosed. We did not find any differences between the groups with and without APOE-driven risk, which might be carefully interpreted as no signs of Alzheimer’s Disease pathology in persons at risk at such an early life stage. Taken together, we think that the Alzheimer’s Disease pathology starts some 10-20 years before the beginning of the clinical symptoms, but not earlier. (more…)
Alzheimer's - Dementia, Author Interviews, Coffee / 08.04.2014

Prof. Dr. Christa E. Müller University of Bonn Pharmaceutical Institute Pharmaceutical Chemistry I An der Immenburg 4 D-53121 Bonn (Endenich) Germany MedicalResearch.com Interview with: Prof. Dr. Christa E. Müller University of Bonn Pharmaceutical Institute Pharmaceutical Chemistry I An der Immenburg 4  D-53121 Bonn (Endenich) Germany MedicalResearch.com: What are the main findings of the study? Prof. Dr. Christa E. Müller: Genetically altered mice which show an aggregation of Tau protein and many symptoms of Alzheimer's Disease which progressively worsen with time was used. Caffeine was given to one group of mice at an early stage, when the symptoms were still moderate. The caffeine-treated mice showed better memory and less inflammation and brain damages in comparison to the non-treated control mice. This means that caffeine protected the mice to some extent. The side effects were moderate. (more…)
Alzheimer's - Dementia, Author Interviews, Diabetes, Mental Health Research, NIH, University of Pittsburgh / 01.04.2014

Rosebud O Roberts, M.B., Ch.B. Professor of Epidemiology Professor of Neurology Mayo ClinicMedicalResearch.com Interview with: Rosebud O Roberts, M.B., Ch.B. Professor of Epidemiology Professor of Neurology Mayo Clinic MedicalResearch.com: What are the main findings of the study? Dr. Roberts: We found that among persons 70 years and older, people with type 2 diabetes had a reduced glucose uptake (hypometabolism) in  brain cells.  We also found a similar association for people without type 2 diabetes but who had elevated hemoglobin A1c levels levels at the time of enrollment (HBA1c is a measure of glucose control, and represents the average blood glucose levels over a 3 month period). However, we did not find an association of diabetes with increased brain amyloid accumulation.  Our findings were based on an investigation of the association of type 2 diabetes with markers of brain pathology: brain hypometabolism was assessed by 18F-fluorodeoxyglucose positron emission tomography [PET] and amyloid accumulation was assessed by 11-C Pittsburgh Compound B PET imaging. (more…)
Alzheimer's - Dementia, Author Interviews, JAMA, University of Pittsburgh, Wake Forest / 31.03.2014

MedicalResearch.com Interview Invitation with: Timothy Hughes, PhD, MPH Roena B. Kulynych Center for Memory & Cognition Research Department of Internal Medicine Division of Gerontology and Geriatric Medicine Wake Forest School of Medicine Medical Center Boulevard, Winston-Salem, NC 27157-1207Timothy Hughes, PhD, MPH Roena B. Kulynych Center for Memory & Cognition Research Department of Internal Medicine Division of Gerontology and Geriatric Medicine Wake Forest School of Medicine Medical Center Boulevard, Winston-Salem, NC  27157-1207 MedicalResearch.com: What are the main findings of the study? Dr. Hughes: This study is a follow-up to our recent paper that showed a novel relationship between arterial stiffness (commonly measured by pulse wave velocity) and the presence and extent of amyloid deposition in the brain, a hallmark of Alzheimer’s disease. For this study, we repeated brain amyloid imaging (using the Pittsburgh Compound B during PET imaging) in order to look for predictors of change in amyloid over two years in n=81 elderly adults aged 80+ and free from dementia. We observed that measures of systemic arterial stiffness (e.g. brachial ankle pulse wave velocity) was strongly associated with the extent of amyloid deposition in the brain at both baseline and follow-up. The change in brain amyloid accumulation over two years resulted in an increase in in the number of participants with Alzheimer’s-like (amyloid-positive) from 45% at baseline to a surprising 75% after just two years. This change in brain amyloid accumulation over two years was strongly related to having greater central stiffness (as measured by carotid femoral pulse wave velocity). These relationships between arterial stiffness and brain amyloid deposition were independent of the effects of age, gender, body mass index, antihypertensive medication use and even current blood pressure. (more…)
Alzheimer's - Dementia, Author Interviews, PNAS, University of Michigan / 19.03.2014

Yanzhuang Wang, PhD Associate professor Dept. of Molecular, Cellular and Developmental Biology and Dept. of Neurology University of Michigan Ann Arbor, MI 48109-1048MedicalResearch.com Interview with: Yanzhuang Wang, PhD Associate professor Dept. of Molecular, Cellular and Developmental Biology and Dept. of Neurology University of Michigan Ann Arbor, MI 48109-1048  MedicalResearch.com: What are the main findings of the study? Dr. Wang: We learned how to repair a cellular structure called the Golgi apparatus that is broken in Alzheimer’s disease. This helps us understand how to reduce the formation of the toxic plaques that kill cells in the brain of Alzheimer's patients. The formation of amyloid plaques is a hallmark of Alzheimer’s disease; but exactly how much the plaques contribute to the disease is still not known. Our study found that the broken Golgi in the disease may be a major source of the toxicity of amyloid plaques. We showed in this study that repairing the Golgi can reduce the formation of the toxic plaques and thus may delay the disease development. (more…)
Alzheimer's - Dementia / 25.02.2014

Dr. Erin Abner Ph.D. Assistant Professor of Epidemiology University of Kentucky College of Public Health Lexington, KentuckyMedicalResearch.com Interview with: Dr. Erin Abner Ph.D. Assistant Professor of Epidemiology University of Kentucky College of Public Health Lexington, Kentucky MedicalResearch.com: What are the main findings of the study? Dr. Abner:  The findings from this study are preliminary results from The Prevention of Alzheimer’s Disease with Vitamin E and Selenium Study. This early look at the data indicates that very simple measures of memory change, in this case asking older men with no cognitive impairment about changes in their memory over the past year, and whether they believe those changes are a problem, can be used to predict cognitive impairment years later. Men who said at study baseline that the changes in their memory represented problems to them were over twice as likely as men who did not complain to develop clinically detectable cognitive impairment during follow-up. This is exciting because the field of Alzheimer’s research is moving toward earlier intervention in the disease process. As of now, our best methods for identifying individuals without cognitive impairment who are likely to develop Alzheimer’s disease in the future are procedures that many people find intimidating, like lumbar puncture and PET scanning. Identifying older adults at high risk for future cognitive impairment with low-cost, non-invasive screening techniques would help researchers to target potential therapies to the people who stand to benefit the most. (more…)
Alzheimer's - Dementia, Author Interviews, JAMA, Mental Health Research / 19.02.2014

Anton P. Porsteinsson M.D. William B. and Sheila Konar Professor of Psychiatry Director, Alzheimer's Disease Care, Research and Education Program (AD-CARE) University of Rochester School of Medicine and Dentistry Rochester, N.Y. 14620MedicalResearch.com Interview with: Anton P. Porsteinsson M.D. William B. and Sheila Konar Professor of Psychiatry Director, Alzheimer's Disease Care, Research and Education Program (AD-CARE) University of Rochester School of Medicine and Dentistry Rochester, N.Y. 14620 MedicalResearch.com: What are the main findings of the study? Dr. Porsteinsson: Identifying drugs outside the antipsychotic class with targeted anti-agitation effects that provide greater benefit or lower risk among patients with Alzheimer’s disease is a research priority.  Citalopram, a selective serotonin reuptake inhibitor (SSRI), is frequently used in older individualsand has been suggested as an alternative to antipsychotic drugs for agitation and aggression in dementia.  Among 186 patients with probable Alzheimer’s disease and agitation receiving psychosocial intervention, the addition of citalopram compared with placebo robustly and significantly reduced agitation and caregiver distress, but modest cognitive and cardiac adverse effects of citalopram may limit its practical application at the 30 mg/d dose studied in this trial. There are insufficient data on efficacy for agitation at lower doses of citalopram. (more…)
Alzheimer's - Dementia, Author Interviews, Baylor College of Medicine Houston, NEJM / 02.02.2014

Rachelle S. Doody, M.D.,Ph.D. Effie Marie Cain Chair in Alzheimer's Disease Research Director, Alzheimer's Disease and Memory Disorders Center Baylor College of Medicine-Department of Neurology Houston, Texas 77030: MedicalResearch.com MedicalResearch.com Interview with: Rachelle S. Doody, M.D.,Ph.D. Effie Marie Cain Chair in Alzheimer's Disease Research Director, Alzheimer's Disease and Memory Disorders Center Baylor College of Medicine-Department of Neurology Houston, Texas 77030: MedicalResearch.com MedicalResearch.com: What are the main findings of the study?  Dr. Doody: The study set out to see whether the antibody infusion treatment, Solanezumab, would improve the course of mild to moderate Alzheimer's disease in the ways necessary to gain drug approval.  Unfortunately, the results did not support an approvable treatment for this purpose. (more…)
Alzheimer's - Dementia, Author Interviews, JAMA / 10.01.2014

Maurice Dysken, MD Professor, School of Medicine Department of Psychiatry Minneapolis VA Health Care System, Minneapolis, MinnesotaMedicalResearch.com Interview Invitation Maurice Dysken, MD Professor, School of Medicine Department of Psychiatry Minneapolis VA Health Care System, Minneapolis, Minnesota MedicalResearch.com: What are the main findings of the study? Dr. Dysken: In patients with mild-to-moderate Alzheimer’s disease who were taking an acetylcholinesterase inhibitor, a dosage of 2000 IU/d of vitamin E significantly slowed functional decline compared to placebo by 6.2 months over the mean follow-up period of 2.27 years.  Over this period of time caregiver time increased least in the vitamin E group compared to the other three groups (memantine alone, vitamin E plus memantine, and placebo) although the only statistically significant difference was between vitamin E alone and memantine alone.  There were no significant safety concerns for vitamin E compared to placebo and mortality was lowest in the vitamin E alone group.  It should be noted that patients who were on warfarin were excluded from the study because of a possible interaction with vitamin E that could have possibly increased bleeding events. (more…)
Alzheimer's - Dementia, Author Interviews, JAMA, Lipids / 02.01.2014

MedicalResearch.com Interview with: Dr. Bruce Reed PhD Professor of Neurology, Associate Director UC Davis Alzheimer's Disease Center Davis, CA 95616 Dr. Bruce Reed PhD Professor of Neurology, Associate Director UC Davis Alzheimer's Disease Center Davis, CA 95616 MedicalResearch.com: What are the main findings of the study? Dr. Reed: We found that high LDL cholesterol and low HDL cholesterol in blood  were both associated with higher amyloid deposition in the brain.  This is potentially very important because the deposition of amyloid seems to be a critical step that kicks off a whole chain of events that eventually lead to Alzheimer's disease.  It is widely believed (although not proven) that if this deposition of amyloid could be blocked that we could greatly decrease the incidence of Alzheimer's.  The connection to cholesterol is exciting because we know a fair amount about how to change cholesterol levels.  A great deal more research needs to be done, but this does suggest a potential new path toward trying to prevent AD. (more…)
Alzheimer's - Dementia, Author Interviews, Cognitive Issues / 21.12.2013

MedicalResearch.com Interview with: Dr. Alan B. Zonderman PhD Cognition Section Laboratory of Personality and Cognition, NIA Gerontology Research Center Baltimore, MD 21224-6825 MedicalResearch.com: What are the main findings of the study? Dr. Zonderman: In a prospective population-based 5-year follow-up study the authors examined the rate at which participants converted from mild cognitive impairment to dementia or reverted from mild cognitive impairment to normal cognitive performance.  As has been common, they found elevated risk for dementia associated with mild cognitive impairment, but also found elevated risk for dementia among those who reverted (temporarily) to normal cognitive performance. (more…)
Alzheimer's - Dementia, Author Interviews, Cognitive Issues, Mayo Clinic / 20.12.2013

Dr. Ronald C. Petersen M.D., Ph.D. Division of Epidemiology Department of Health Sciences Research; Department of Neurology Mayo Clinic, Rochester, MNMedicalResearch.com Interview with: Dr. Ronald C. Petersen M.D., Ph.D. Division of Epidemiology Department of Health Sciences Research; Department of Neurology Mayo Clinic, Rochester, MN MedicalResearch.com: What are the main findings of the study? Dr. Petersen: The diagnosis of mild cognitive impairment increases the likelihood of developing dementia. (more…)
Alzheimer's - Dementia, Author Interviews / 17.12.2013

MedicalResearch.com Interview with: Lieke Smits drs. L.L. Smits VU University Medical Center Department of Neurology - Alzheimer Center 1081 HV Amsterdam, The Netherlands MedicalResearch.com:  What are the main findings of the study? Answer: In this study we used two visual ratings scales to estimate atrophy of the medial temporal lobe (MTA) and posterior atrophy (PA) on MRI in patients with Alzheimer’s disease. We assessed associations between MTA and PA with cognitive impairment. We found that MTA was associated with worse performance in memory, language and attention, while PA was associated with worse performance in viuso-spatial functioning and executive functioning. Further stratification for age at diagnosis revealed that in late onset (>65 years old) MTA was associated with impairment in memory, language, visuo-spatial functioning and attention. In early onset patients (<65 years old), worse performance on visuo-spatial functioning almost reached significance. (more…)
Alzheimer's - Dementia, Author Interviews, Nature / 05.12.2013

Alessandra d’Azzo PhD Department of Genetics, St Jude Children’s Research Hospital 262 Danny Thomas Place, Memphis, Tennessee 38105MedicalResearch.com Interview with: Alessandra d’Azzo PhD Department of Genetics, St Jude Children’s Research Hospital 262 Danny Thomas Place, Memphis, Tennessee 38105 MedicalResearch.com: What are the main findings of the study? Dr. d’Azzo: We have discovered a connection between a rare childhood disorder and Alzheimer’s disease that usually affects older people. The culprit is a metabolic enzyme called NEU1 that normally controls the recycling or disposal of proteins in a specific cell compartment, the lysosome. When NEU1 is defective, children develop the severe metabolic disease, sialidosis. Our study suggests that NEU1 also plays an important role in the development of Alzheimer’s disease. Based on this discovery, we decided to increase NEU1 enzyme activity in the brain of an Alzheimer’s disease mouse model that shows features characteristic of the human disease, namely the accumulation of toxic protein aggregates or plaques. Remarkably, we could significantly diminish the number of plaques in the brain of these mice by increasing NEU1 enzyme activity. (more…)
Alzheimer's - Dementia, Author Interviews, Blood Pressure - Hypertension / 23.11.2013

MedicalResearch.com Interview with: Dan Nation Assistant Professor, Department of Psychology at University of Southern California Veterans Affairs San Diego Healthcare System MedicalResearch.com: What are the main findings of the study? Answer:   The main study findings indicate that high blood pressure, specifically pulse pressure (systolic - diastolic pressure), is associated with increased markers of Alzheimer's disease in the cerebral spinal fluid of healthy middle-aged adults.  These results suggest a connection between blood pressure and Alzheimer's disease prior to the onset of any symptoms of the disease. (more…)
Alzheimer's - Dementia, Author Interviews / 24.10.2013

MedicalResearch.com Interview with: Andrew S. Lim MD MMSc FRCPC DABPN Assistant Professor and Clinician Scientist Division of Neurology, Department of Medicine Sunnybrook Health Sciences Centre University of Toronto MedicalResearch.com: What are the main findings of the study? Dr. Lim: Alzheimer disease (AD) is the result of a confluence of genetic, behavioral, and environmental risk factors.  The Apolipoprotein E (APOE) e4 allele is the most common and well established genetic risk factor for Alzheimer Disease.  10-20% of the US population carries the high risk APOE e4 allele, which confers up to a 30% lifetime risk of AD. Meanwhile, previous work had suggested that poor sleep may be a risk factor for AD and that APOE genotype and poor sleep may amplify each other's negative cognitive effects. We asked the question whether good sleep consolidation (i.e. sound sleep without repeated awakenings) may reduce the effect of APOE on the risk of incident AD and the burden of AD pathology.  We studied 698 individuals without dementia participating in the Rush Memory and Aging Project - a longitudinal cohort study of aging and risk factors for AD.  We measured sleep consolidation using wrist-watch like devices called actigraphs, and followed participants for up to 6 years, examining them annually for the development of AD.  Autopsies were perfumed on 201 participants who died during the follow-up period and we quantified the burden of AD pathology. During the follow-up period, 98 participants developed AD.  As expected, carrying the APOE e4 allele was associated with a higher risk of AD, faster cognitive decline, and a higher burden of AD pathology (amyloid plaques and neurofibrillary tangles) at death. However, better sleep at baseline significantly reduced the negative impact of APOE e4 on the risk of AD, rate of cognitive decline, and burden of neurofibrillary tangle pathology. (more…)
Alzheimer's - Dementia, Author Interviews / 03.10.2013

MedicalResearch.com Interview with: Keiichi Yamamoto, MD, PhD Department of Geriatric Medicine and Neurology, Osaka City University Graduate School of Medicine Osaka, Japan. MedicalResearch.com: What are the main findings of the study? Answer: Aβ is normally bound to and transported by albumin in blood. We therefore hypothesized that decreased blood levels of Albumin-Aβ complexes may be associated with decreased Aβ removal from brain to blood, resulting in Aβ accumulation in the brain. This is the first study demonstrated that decreased serum level of albumin-Aβ complexes was strongly associated with a higher prevalence of Alzheimer’s disease (AD). This association was independent of age, sex, and ApoE4 allele. In addition, decreased serum level of albumin-Aβ complexes was correlated with decreased levels of Aβ42 in the CSF and increased levels of p-tau in the CSF, findings that have been shown to be associated with specific neuropathologic findings and AD progression. (more…)
Alzheimer's - Dementia, Author Interviews, Cognitive Issues / 30.09.2013

Teppo Särkämö PhD Institute of Behavioural Sciences PL 9 (Siltavuorenpenger 1A), 363 FI-00014, HELSINGIN YLIOPISTO FinlandMedicalResearch.com: Teppo Särkämö PhD Institute of Behavioural Sciences PL 9 (Siltavuorenpenger 1A), 363 FI-00014, HELSINGIN YLIOPISTO Finland MedicalResearch.com: What are the main findings of the study? Answer: We found that caregiver-implemented musical leisure activities, such as singing and music listening, are beneficial for elderly persons with mild-moderate dementia (PWD). Compared to standard care, regular singing and music listening improved mood, orientation level, episodic memory and to a lesser extent, also attention and executive function and general cognition. Singing also enhanced verbal working memory and caregiver well-being, whereas music listening had a positive effect on quality of life. (more…)
Alzheimer's - Dementia, Author Interviews, Cognitive Issues / 22.09.2013

Argonde van Harten From the Alzheimer Center School for Mental Health and Neurosciences, Maastricht University Medical Center, Maastricht, the Netherlands.MedicalResearch.com Interview Invitation Argonde van Harten From the Alzheimer Center School for Mental Health and Neurosciences, Maastricht University Medical Center, Maastricht, the Netherlands. MedicalResearch.com: What are the main findings of the study? Answer: We found cerebrospinal fluid biomarker evidence of preclinical Alzheimer's disease (AD) predicted cognitive decline in patients with subjective complaints. These patients have cognitive complaints, but are cognitively normal at baseline. Preclinical AD predicted decline in memory performance, executive functions and global cognition over time. Most patients, however, had no evidence of preclinical AD and their cogntive functions generally remained stable over two years. Their memory performance improved. (more…)
Alzheimer's - Dementia, Author Interviews, CMAJ, JAMA, Mayo Clinic, Parkinson's / 18.09.2013

Rodolfo Savica, MD, MSc Department of Neurology, College of Medicine Division of Epidemiology, Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MinnesotaMedicalResearch.com Interview with: Rodolfo Savica, MD, MSc Department of Neurology, College of Medicine Division of Epidemiology, Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, Minnesota   MedicalResearch.com: What are the main findings of this study? Dr. Savica: This study is the first in North America to explore the incidence of DLB and PDD in a population based sample. We found that the overall incidence of dementia with Lewy bodies (DLB), considered the second leading cause of neurodegenerative dementia after Alzheimer`s disease, is lower than that of Parkinson`s disease (PD), increases steeply with age, and is markedly higher in men than in women. (more…)
Alzheimer's - Dementia, Author Interviews, Genetic Research, JAMA / 30.08.2013

Ekaterina Rogaeva, PhD Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, CanadaDepartment of Medicine, University of Toronto, Toronto, Ontario, CanadaCambridge Institute for Medical Research and Department of Clinical Neurosciences, University of Cambridge, Cambridge, EnglandMedicalResearch.com Interview with: Ekaterina Rogaeva, PhD Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, CanadaDepartment of Medicine, University of Toronto, Toronto, Ontario, CanadaCambridge Institute for Medical Research and Department of Clinical Neurosciences, University of Cambridge, Cambridge, England MedicalResearch.com: What are the main findings of the study? Answer: We tested the hypothesis that late-onset Alzheimer disease (AD) might be in part explained by the homozygosity of unknown loci. In a genome-wide study of a Caribbean Hispanic population with noticeable inbreeding and high risk of AD we assessed the presence of long runs of homozygosity (ROHs) – regions where the alleles inherited from both parents are identical. Our results suggest the existence of recessive AD loci, since the mean length of the ROH per person was significantly longer in AD cases versus controls, and this association was stronger in familial AD. (more…)
Alzheimer's - Dementia, Author Interviews, Genetic Research, Mental Health Research / 16.08.2013

MedicalResearch.com Interview with: Dr. Ramon Trullas Research Professor CSIC Institute of Biomedical Research of Barcelona MedicalResearch.com: What are the main findings of the study? Answer: The findings reported in this manuscript that we consider can be underscored are: 1) Asymptomatic subjects at risk of developing sporadic Alzheimer’s disease (AD), as well as symptomatic patients diagnosed with probable sporadic AD show a low concentration of circulating cell free mitochondrial DNA (mtDNA) in cerebrospinal fluid (CSF). 2) Pre-symptomatic subjects carrying pathogenic PSEN1 gene mutations which cause early onset familial AD, also exhibit low mtDNA content in CSF. 3) Reduced mtDNA content in CSF occurs in preclinical PSEN1 mutation carriers at least one decade before patients are expected to manifest clinical signs of dementia and well before any alteration in currently known AD biomarkers. 4)  Low mtDNA content in CSF distinguishes patients diagnosed with AD from either controls or patients with fronto-temporal lobar degeneration. These findings indicate that the amount of circulating cell-free mtDNA content in CSF may be a novel biomarker for the early detection of AD in the preclinical stage of AD. Moreover, the observation that low mtDNA content in the CSF is associated with both sporadic and familial forms of AD suggests that, independently of the etiology, regulation of mtDNA content is a converging factor in the pathophysiology of AD. (more…)
Alzheimer's - Dementia, Author Interviews, Genetic Research, Nature / 16.08.2013

MedicalResearch.com Interview with: Steve Estus PhD Dept. of Physiology University of Kentucky Office: Room 332 Sanders-Brown Building 800 S. Limestone Street Lexington, KY 40536-0230 MedicalResearch.com: What are the main findings of the study? Answer: We report evidence for the function of a Alzheimer's genetic  risk factor.  This protective allele of the polymorphism decreases the splicing efficiency of exon 2 in CD33, a receptor protein that regulates microglial activation.  Loss of exon 2 appears to produce a dormant CD33 protein, resulting in increased microglial phagocytosis activity.  Overall, these findings confirm and extend recent papers in Neuron and Nature Neuroscience  (discussed further in our report) that described decreased CD33 activity with the protective SNP allele. (more…)
Alzheimer's - Dementia, Author Interviews, JAMA, Mental Health Research, UCSF / 26.04.2013

MedicalResearch.com eInterview with Dr. David Perry UCSF School of Medicine Clinical Fellow in Neurology 675 Nelson Rising Lane San Francisco CA 94158 MedicalResearch.com: What are the main findings of the study? Dr. Perry: We described two patients with clinical syndromes and brain imaging patterns that are consistent with Alzheimer’s disease. Both were found to have mutations in GRN, which are typically associated with inherited frontotemporal dementia. They both showed evidence of underlying Alzheimer’s pathology, in one case through autopsy confirmation (demonstrating Alzheimer’s disease in addition to TDP-43 pathology), and in the other case from a positive amyloid PET scan. (more…)