Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.


:C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of C9orf72 repeat expansions in the disease. Here, we investigated the prevalence of C9orf72 repeat expansions in a large cohort of DLB cases and identified no pathogenic repeat expansions in neuropathologically or clinically defined cases, showing that C9orf72 repeat expansions are not causally associated with DLB.


Neurobiol Aging


Neurobiology of aging


Kun-Rodrigues C,Ross OA,Orme T,Shepherd C,Parkkinen L,Darwent L,Hernandez D,Ansorge O,Clark LN,Honig LS,Marder K,Lemstra A,Scheltens P,van der Flier W,Louwersheimer E,Holstege H,Rogaeva E,St George-Hyslop P,Londos E,




Has Abstract


2017-01-01 00:00:00












  • Zinc and copper modulate Alzheimer Abeta levels in human cerebrospinal fluid.

    abstract::Abnormal interaction of beta-amyloid 42 (Abeta42) with copper, zinc and iron induce peptide aggregation and oxidation in Alzheimer's disease (AD). However, in health, Abeta degradation is mediated by extracellular metalloproteinases, neprilysin, insulin degrading enzyme (IDE) and matrix metalloproteinases. We investig...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Strozyk D,Launer LJ,Adlard PA,Cherny RA,Tsatsanis A,Volitakis I,Blennow K,Petrovitch H,White LR,Bush AI

    更新日期:2009-07-01 00:00:00

  • Effects of hypocaloric diet on sleep in young and old rats.

    abstract::Aging produces a loss in a number of behavioral and cognitive functions, including sleep. Hypocaloric diet is one of the few methods that have been shown to retard the effects due to age. However, the effects of such a diet on sleep have never been investigated. In the present study, 21 months old male F344 rats fed a...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Salin-Pascual RJ,Upadhyay U,Shiromani PJ

    更新日期:2002-09-01 00:00:00

  • Nitric oxide mediated recovery sleep is attenuated with aging.

    abstract::Nitric oxide (NO) produced by inducible nitric oxide synthase (iNOS) in the cholinergic basal forebrain (BF) during sleep deprivation (SD) is implicated in adenosine (AD) release and induction of recovery sleep. Aging is associated with impairments in sleep homeostasis, such as decrease in non-rapid eye movement sleep...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Rytkönen KM,Wigren HK,Kostin A,Porkka-Heiskanen T,Kalinchuk AV

    更新日期:2010-11-01 00:00:00

  • Differences between early and late-onset Alzheimer's disease.

    abstract::Alzheimer's disease of early onset versus that of late onset represent different syndromes, with distinct neuropathologies. Patients with early onset disease exhibit a more severe and more widespread loss of neurons from cortical and sub-cortical regions and the neurochemical changes involve not only the cholinergic s...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Iversen LL

    更新日期:1987-11-01 00:00:00

  • Normal neuroanatomical variation due to age: the major lobes and a parcellation of the temporal region.

    abstract::We used high-resolution MRI to investigate gray and white matter aging in the major lobes of the cerebrum (frontal, parietal, temporal, occipital) and the major sectors of the temporal lobe (temporal pole, superior temporal gyrus, infero-temporal region, parahippocampal gyrus, amygdala, hippocampus). Subjects included...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Allen JS,Bruss J,Brown CK,Damasio H

    更新日期:2005-10-01 00:00:00

  • SNCA variants rs2736990 and rs356220 as risk factors for Parkinson's disease but not for amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population.

    abstract::Previous studies found that polymorphisms rs2736990 and rs356220 in the alpha-synuclein (SNCA) gene increase the risk for Parkinson's disease (PD) in a Caucasian population. In consideration of the overlapping of clinical manifestations and pathologic characteristics among PD, amyotrophic lateral sclerosis (ALS), and ...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Guo XY,Chen YP,Song W,Zhao B,Cao B,Wei QQ,Ou RW,Yang Y,Yuan LX,Shang HF

    更新日期:2014-12-01 00:00:00

  • Currents of memory: recent progress, translational challenges, and ethical considerations in fornix deep brain stimulation trials for Alzheimer's disease.

    abstract::The serendipitous discovery of triggered autobiographical memories and eventual memory improvement in an obese patient who received fornix deep brain stimulation in 2008 paved the way for several phase I and phase II clinical trials focused on the safety and efficacy of this potential intervention for people with Alzh...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章,评审


    authors: Viaña JNM,Vickers JC,Cook MJ,Gilbert F

    更新日期:2017-08-01 00:00:00

  • A meta-analysis of hippocampal atrophy rates in Alzheimer's disease.

    abstract::Hippocampal atrophy rates are useful in both diagnosing and tracking Alzheimer's disease (AD). However, cohorts and methods used to determine such rates are heterogeneous, leading to differences in reported annualised rates. We performed a meta-analysis of hippocampal atrophy rates in AD patients and matched controls ...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章,meta分析,评审


    authors: Barnes J,Bartlett JW,van de Pol LA,Loy CT,Scahill RI,Frost C,Thompson P,Fox NC

    更新日期:2009-11-01 00:00:00

  • How can elderly apolipoprotein E ε4 carriers remain free from dementia?

    abstract::Apolipoprotein E (APOE) ε4 is a major risk factor for Alzheimer's disease (AD) and dementia, but not all ε4 carriers develop dementia. We sought to identify factors that may play a role in modifying the risk of dementia due to ε4. A cognitively intact cohort (n = 932, age ≥ 75) was followed for 9 years to detect incid...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Ferrari C,Xu WL,Wang HX,Winblad B,Sorbi S,Qiu C,Fratiglioni L

    更新日期:2013-01-01 00:00:00

  • Profiling of endogenous brain peptides and small proteins: methodology, computer-assisted analysis, and application to aging and lesion models.

    abstract::Significant advances in the technology for the isolation of peptides and small proteins have permitted their identification as biologic markers and enhanced the study of the posttranslational life of proteins. The protocol described here examined large numbers of tissue-derived peptides and small proteins, extracted i...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Slemmon JR,Flood DG

    更新日期:1992-11-01 00:00:00

  • Extracellular vesicles, new actors in the search for biomarkers of dementias.

    abstract::Increased life expectancy impacts directly on the number of older people worldwide with the associated increase in neurodegenerative diseases. Besides their social implications, the different forms of dementia, including Alzheimer's disease, Parkinson's disease, dementia with Lewy bodies or frontotemporal dementia, sh...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章,评审


    authors: Gámez-Valero A,Beyer K,Borràs FE

    更新日期:2019-02-01 00:00:00

  • Lymphomonocyte alpha-synuclein levels in aging and in Parkinson disease.

    abstract::In this study we employed an ELISA assay to measure alpha-synuclein protein in lymphomonocytes from 78 PD patients and 78 controls. We correlated protein levels with demographic and clinical characteristics and with the chymotryptic and tryptic activities of the 20S proteasome. Alpha-synuclein levels were not signific...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Brighina L,Prigione A,Begni B,Galbussera A,Andreoni S,Piolti R,Ferrarese C

    更新日期:2010-05-01 00:00:00

  • Cognitive reserve and rate of change in Alzheimer's and cerebrovascular disease biomarkers among cognitively normal individuals.

    abstract::We examined whether cognitive reserve (CR) impacts level of, or rate of change in, biomarkers of Alzheimer's disease (AD) and small-vessel cerebrovascular disease in >250 individuals who were cognitively normal and middle-aged and older at the baseline. The four primary biomarker categories commonly examined in studie...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Pettigrew C,Soldan A,Zhu Y,Cai Q,Wang MC,Moghekar A,Miller MI,Singh B,Martinez O,Fletcher E,DeCarli C,Albert M

    更新日期:2020-04-01 00:00:00

  • Quantitation of synaptic density in the septal nuclei of young and aged Fischer 344 rats.

    abstract::Synaptic density in the medial and lateral septal nuclei was examined in 3 and 24-28 months of age Fischer 344 rats. The lateral nucleus had a higher synaptic density than the medial region in both age groups. There were no statistically significant differences in synapse density in either region as a function of age,...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章,评审


    authors: Scheff SW,Scott SA,DeKosky ST

    更新日期:1991-01-01 00:00:00

  • Significance of decreased lumbar CSF levels of HVA and 5-HIAA in Alzheimer's disease.

    abstract::The monoamine metabolites homovanillic acid (HVA), 5-hydroxy-indoleacetic acid (5-HIAA) and 4-hydroxy-3-methoxy-phenylglycol (HMPG) were determined in lumbar cerebrospinal fluid (CSF) of 123 patients with Alzheimer's disease (AD) and 57 healthy controls. Despite CSF sampling under strictly standardized conditions, a w...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Blennow K,Wallin A,Gottfries CG,Lekman A,Karlsson I,Skoog I,Svennerholm L

    更新日期:1992-01-01 00:00:00

  • Analysis of pleiotropic genetic effects on cognitive impairment, systemic inflammation, and plasma lipids in the Health and Retirement Study.

    abstract::Variants associated with modulation of c-reactive protein (CRP) and plasma lipids have been investigated for polygenic overlap with Alzheimer's disease risk variants. We examined pleiotropic genetic effects on cognitive impairment conditioned on genetic variants (SNPs) associated with systemic inflammation as measured...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Lutz MW,Casanova R,Saldana S,Kuchibhatla M,Plassman BL,Hayden KM

    更新日期:2019-08-01 00:00:00

  • Dietary (-)-epicatechin as a potent inhibitor of βγ-secretase amyloid precursor protein processing.

    abstract::Flavonoids, a group of dietary polyphenols have been shown to possess cognitive health benefits. Epidemiologic evidence suggests that they could play a role in risk reduction in dementia. Amyloid precursor protein processing and the subsequent generation of amyloid beta (Aβ) are central to the pathogenesis of Alzheime...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Cox CJ,Choudhry F,Peacey E,Perkinton MS,Richardson JC,Howlett DR,Lichtenthaler SF,Francis PT,Williams RJ

    更新日期:2015-01-01 00:00:00

  • Developmental and vascular risk factors for Alzheimer's disease.

    abstract::To investigate developmental and vascular risk factors for Alzheimer's disease (AD), we examined 90 incident cases of probable AD in a cohort of 1859 individuals followed prospectively for six years. The presence of the APOE-epsilon4 allele was the strongest risk factor, and with increasing survival age, the effect of...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Borenstein AR,Wu Y,Mortimer JA,Schellenberg GD,McCormick WC,Bowen JD,McCurry S,Larson EB

    更新日期:2005-03-01 00:00:00

  • Changing complexity in human behavior and physiology through aging and disease.

    abstract::Lipsitz and Goldberger proposed that there is a loss in the complexity of physiological and behavioral systems with aging and disease. Here, we show that this unidirectional view of the change in system complexity is too narrow in its consideration of the actual changes that occur with aging and disease. An increase o...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章,评审


    authors: Vaillancourt DE,Newell KM

    更新日期:2002-01-01 00:00:00

  • Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study.

    abstract::Several genes and risk factors are associated with Parkinson's disease (PD). Although many of the genetic markers belong to a common pathway, a unifying pathogenetic mechanism is yet to be found. Also, missing heritability analyses have estimated that only part of the genetic influence contributing to PD has been foun...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Siitonen A,Nalls MA,Hernández D,Gibbs JR,Ding J,Ylikotila P,Edsall C,Singleton A,Majamaa K

    更新日期:2017-05-01 00:00:00

  • Short-term memory, exploration and locomotor activity in aged rats.

    abstract::Behavioral profiles of young (3-6 months) and aged (24-27 months) rats were compared in three respects: (1) short-term memory, (2) exploration and (3) locomotor activity. Compared to young rats, aged rats were impaired in the 8-arm radial maze acquisition, but not in the delayed reinforced alternation acquisition. The...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Willig F,Palacios A,Monmaur P,M'Harzi M,Laurent J,Delacour J

    更新日期:1987-09-01 00:00:00

  • Effects of age and dopamine D2L receptor-deficiency on motor and learning functions.

    abstract::Decreases in the activity or density of dopamine D2 receptor (D2R) have been associated with age-related changes and neurodegenerative diseases such as Parkinson's disease. There are two isoforms of the D2R, termed the D2 long receptor (D2LR) and D2 short receptor (D2SR). To study the function of these two isoforms an...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Fetsko LA,Xu R,Wang Y

    更新日期:2005-04-01 00:00:00

  • Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease.

    abstract::Alzheimer's disease (AD) is a genetically complex disorder for which the definite diagnosis is only accomplished postmortem. Mutations in 3 genes (APP, PSEN1, and PSEN2) are known to cause AD, but a large number of familial cases do not harbor mutations in these genes and several unidentified genes that contain diseas...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Guerreiro RJ,Lohmann E,Kinsella E,Brás JM,Luu N,Gurunlian N,Dursun B,Bilgic B,Santana I,Hanagasi H,Gurvit H,Gibbs JR,Oliveira C,Emre M,Singleton A

    更新日期:2012-05-01 00:00:00

  • High cholesterol affects platelet APP processing in controls and in AD patients.

    abstract::Alzheimer disease (AD) is characterised by a decrease of platelet Amyloid Precursor Protein forms ratio (APPr), which parallels symptoms' severity. Recent studies have suggested that cholesterol might play a role in the pathophysiology of AD by modulating Abeta production. Aim of this study was to evaluate the relatio...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Borroni B,Colciaghi F,Lenzi GL,Caimi L,Cattabeni F,Di Luca M,Padovani A

    更新日期:2003-09-01 00:00:00

  • Medial temporal lobe volume of nondemented elderly individuals with poor cognitive functions.

    abstract::Poor cognitive performance of elderly individuals with low educational attainment is often difficult to interpret in dementia evaluation. Lack of education, as well as dementia, is often associated with poor cognitive test performance. To elucidate the underlying structural change of low cognitive performance in elder...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Chey J,Na DG,Tae WS,Ryoo JW,Hong SB

    更新日期:2006-09-01 00:00:00

  • Geometric response to nerve growth factor is preserved in aged rat sensory neurons: a single-neuron culture study.

    abstract::We previously established a single-neuron culture system to analyze the primary effects of neurotrophic factors and reported that NGF promoted neurite extension in young adult (4- to 6-month-old) rat dorsal root ganglion (DRG) neurons by promoting neurite arborization. In this study, we demonstrated that the effects o...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Itoh T,Sobue G,Yasuda T,Kimata K,Mitsuma T,Takahashi A

    更新日期:1993-03-01 00:00:00

  • No vasopressin cell loss in the human hypothalamus in aging and Alzheimer's disease.

    abstract::The total number of immunocytochemically identified vasopressin (AVP) cells was determined morphometrically in the paraventricular (PVN) and dorsolateral part of the supraoptic nucleus (dl-SON) of the human hypothalamus in 30 subjects ranging in age from 15 to 97 years, including 10 Alzheimer's disease (AD) patients. ...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Van der Woude PF,Goudsmit E,Wierda M,Purba JS,Hofman MA,Bogte H,Swaab DF

    更新日期:1995-01-01 00:00:00

  • Neurovascular coupling in Alzheimer patients: effect of acetylcholine-esterase inhibitors.

    abstract::Dualistic effects of acetylcholine-esterase inhibitors on neuronal as well as vasoregulative function have been debated. This study investigated for the first time effects of medication on both components. Visually evoked potentials and resultant hemodynamic responses were assessed in Alzheimer patients (n=31) without...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Rosengarten B,Paulsen S,Burr O,Kaps M

    更新日期:2009-12-01 00:00:00

  • A TAP2 genotype associated with Alzheimer's disease in APOE4 carriers.

    abstract::Sporadic Alzheimer's disease (AD) appears to be the consequence of the interaction between combinations of genes and environmental factors. Binding with the transporter associated with antigen processing (TAP) is thought to be the main way in which herpes simplex virus type 1 (HSV-1) evades immune surveillance. Severa...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章,多中心研究


    authors: Bullido MJ,Martínez-García A,Artiga MJ,Aldudo J,Sastre I,Gil P,Coria F,Muñoz DG,Hachinski V,Frank A,Valdivieso F

    更新日期:2007-04-01 00:00:00

  • Voxel-based morphometry in autopsy proven PSP and CBD.

    abstract::The aim of this study was to compare the patterns of grey and white matter atrophy on MRI in autopsy confirmed progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD), and to determine whether the patterns vary depending on the clinical syndrome. Voxel-based morphometry was used to compare patterns of...

    journal_title:Neurobiology of aging

    pub_type: 杂志文章


    authors: Josephs KA,Whitwell JL,Dickson DW,Boeve BF,Knopman DS,Petersen RC,Parisi JE,Jack CR Jr

    更新日期:2008-02-01 00:00:00