Clinical, Genetic, and Neuroimaging Features of Early Onset Alzheimer Disease: The Challenges of Diagnosis and Treatment

The diagnosis of dementia due to Alzheimer's disease: Recommendations from the National Institute on Aging‐Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease

2011 • 16,302 citations

Gene Dose of Apolipoprotein E Type 4 Allele and the Risk of Alzheimer's Disease in Late Onset Families

1993 • 8,888 citations

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

1991 • 4,533 citations

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

2013 • 4,087 citations

The Association Between Quantitative Measures of Dementia and of Senile Change in the Cerebral Grey Matter of Elderly Subjects

1968 • 4,041 citations

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

1995 • 3,985 citations

Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus

1995 • 2,548 citations

TREM2 Variants in Alzheimer's Disease

2012 • 2,548 citations

Variant ofTREM2Associated with the Risk of Alzheimer's Disease

2012 • 2,243 citations

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

1995 • 2,028 citations

Cognition and anatomy in three variants of primary progressive aphasia

2004 • 1,506 citations

Uber eine eigenartige Erkrankung der Hirnrinde

1907 • 1,332 citations

Gene–environment interactions in psychiatry: joining forces with neuroscience

2006 • 1,263 citations

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

2005 • 1,189 citations

The Genetic Defect Causing Familial Alzheimer's Disease Maps on Chromosome 21

1987 • 1,149 citations

Covalent Modification of DNA Regulates Memory Formation

2007 • 1,135 citations

The prevalence of frontotemporal dementia

2002 • 1,117 citations

Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons

2010 • 955 citations

Genetic Linkage Evidence for a Familial Alzheimer's Disease Locus on Chromosome 14

1992 • 941 citations

Prevalence of Alzheimer's disease and vascular dementia: association with education. The Rotterdam study

1995 • 786 citations

Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum

1999 • 758 citations

Posterior Cortical Atrophy

1988 • 729 citations

Apolipoprotein E and Alzheimer disease.

1995 • 697 citations

The prevalence and causes of dementia in people under the age of 65 years

2003 • 615 citations

Atypical and typical presentations of Alzheimer's disease: a clinical, neuropsychological, neuroimaging and pathological study of 13 cases

2000 • 607 citations

Clinical, genetic, and neuropathologic characteristics of posterior cortical atrophy

2004 • 587 citations

Focal cortical presentations of Alzheimer's disease

2007 • 549 citations

Demonstration of Amyloid Deposits and Neurofibrillary Changes in Whole Brain Sections

1991 • 549 citations

Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease

2010 • 484 citations

ApoE-4 and Age at Onset of Alzheimer's Disease

1997 • 467 citations

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14

1992 • 458 citations

The topography of grey matter involvement in early and late onset Alzheimer's disease

2007 • 421 citations

A new amyloid β variant favoring oligomerization in Alzheimer's‐type dementia

2008 • 399 citations

The Presenilins in Alzheimer's Disease--Proteolysis Holds the Key

1999 • 395 citations

A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis

2009 • 394 citations

Clinical and Pathological Evidence for a Frontal Variant of Alzheimer Disease

1999 • 394 citations

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

2006 • 370 citations

Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

2011 • 342 citations

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant

1996 • 301 citations

Early-onset versus late-onset Alzheimer's disease: the case of the missing APOE ɛ4 allele

2010 • 288 citations

Epigenetic modifications in frontal cortex from Alzheimer's disease and bipolar disorder patients

2012 • 282 citations

Rescue of aging-associated decline in Dnmt3a2 expression restores cognitive abilities

2012 • 272 citations

Alzheimer's disease: Genetic aspects and associated clinical disorders

1983 • 269 citations

A locus for familial early–onset Alzhelmer's disease on the long arm of chromosome 14, proximal to the α1–antichymotrypsin gene

1992 • 267 citations

Increased metabolic vulnerability in early-onset Alzheimer’s disease is not related to amyloid burden

2010 • 262 citations

A Pan‐<scp>E</scp>uropean Study of theC9orf72Repeat Associated with<scp>FTLD</scp>: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

2012 • 256 citations

Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation

1997 • 254 citations

Genome-Wide DNA Methylation Differences Between Late-Onset Alzheimer's Disease and Cognitively Normal Controls in Human Frontal Cortex

2012 • 244 citations

Alzheimer’s disease phenotypes and genotypes associated with mutations in presenilin 2

2010 • 241 citations

Prevalence of severe dementia in Finland

1985 • 234 citations

Apolipoprotein E (APOE) genotype has dissociable effects on memory and attentional–executive network function in Alzheimer’s disease

2010 • 230 citations

Genetics of Alzheimer's Disease: A Centennial Review

2007 • 225 citations

Glucose metabolism in early onset versus late onset Alzheimer's disease: an SPM analysis of 120 patients

2005 • 225 citations

Neuronal Networks in Alzheimer's Disease

2009 • 225 citations

Florbetapir PET analysis of amyloid-β deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study

2012 • 220 citations

A New Pathogenic Mutation in the APP Gene (I716V) Increases the Relative Proportion of A 42(43)

1997 • 220 citations

Autosomal Recessive Causes Likely in Early-Onset Alzheimer Disease

2011 • 218 citations

Increased in Vivo Amyloid-β42 Production, Exchange, and Loss in Presenilin Mutation Carriers

2013 • 196 citations

High Prevalence of Pathogenic Mutations in Patients with Early-Onset Dementia Detected by Sequence Analyses of Four Different Genes

2000 • 192 citations

Amyloid Angiopathy and Variability in Amyloid β Deposition Is Determined by Mutation Position in Presenilin-1-Linked Alzheimer’s Disease

2001 • 184 citations

Progressive biparietal atrophy: an atypical presentation of Alzheimer's disease.

1996 • 177 citations

Alzheimer's pathology in primary progressive aphasia

2010 • 170 citations

Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Aβ 42/40 ratios

2004 • 170 citations

High Striatal Amyloid β-Peptide Deposition Across Different Autosomal Alzheimer Disease Mutation Types

2009 • 168 citations

Clinical and neuropsychological characteristics in familial and sporadic Alzheimer's disease

1996 • 156 citations

Dutch, Flemish, Italian, and Arctic mutations of APP and resistance of Aβ to physiologically relevant proteolytic degradation

2003 • 153 citations

TREM2 R47H Variant as a Risk Factor for Early-Onset Alzheimer's Disease

2013 • 149 citations

Four subgroups of Alzheimer's disease based on patterns of atrophy using VBM and a unique pattern for early onset disease

2006 • 147 citations

Early-onset Alzheimer's Disease: Nonamnestic Subtypes and Type 2 AD

2012 • 147 citations

Prevalence and Causes of Early-Onset Dementia in Japan

2009 • 134 citations

How and When Environmental Agents and Dietary Factors Affect the Course of Alzheimers Disease: The &amp;#x201C;LEARn&amp;#x201D; Model (Latent Early-Life Associated Regulation) May Explain the Triggering of AD

2007 • 132 citations

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-? concentrations

2000 • 132 citations

DNA methylation map of mouse and human brain identifies target genes in Alzheimer’s disease

2013 • 132 citations

Differences in cerebral metabolic impairment between early and late onset types of Alzheimer's disease

2002 • 131 citations

Temporoparietal atrophy: A marker of AD pathology independent of clinical diagnosis

2009 • 123 citations

Incidence and subtypes of early-onset dementia in a geographically defined general population

2010 • 122 citations

PET amyloid ligand [11C]PIB uptake shows predominantly striatal increase in variant Alzheimer's disease

2008 • 118 citations

The “LEARn” (Latent Early-life Associated Regulation) model integrates environmental risk factors and the developmental basis of Alzheimer’s disease, and proposes remedial steps

2010 • 116 citations

Functional connectivity changes differ in early and late-onset alzheimer's disease

2013 • 113 citations

Phenotype of chromosome 14–linked familial Alzheimer's disease in a large kindred

1994 • 103 citations

Clinically diagnosed presenile dementia of the Alzheimer type in the Northern Health Region: ascertainment, prevalence, incidence and survival

1993 • 96 citations

Wide range in age of onset for chromosome 1‐related familial Alzheimer's disease

1996 • 94 citations

FAMILIAL ORGANIC PSYCHOSIS (ALZHEIMER'S TYPE)

1934 • 77 citations

Novel mutations and repeated findings of mutations in familial Alzheimer disease

2005 • 76 citations

Presenilin-1 Mutations in Alzheimer's Disease: An Update on Genotype-Phenotype Relationships

2013 • 75 citations

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation

2001 • 74 citations

Cognitive Impairment in Alzheimer’s Disease Is Modified by APOE Genotype

2007 • 69 citations

Clinical course of neuropathologically confirmed frontal-variant Alzheimer's disease

2008 • 68 citations

Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I

2000 • 68 citations

Cerebral amyloidosis: amyloid subunits, mutants and phenotypes

2009 • 64 citations

Prevalence and Incidence of Clinically Diagnosed Memory Impairments in a Geographically Defined General Population in Sweden

1999 • 62 citations

The Arctic Alzheimer mutation favors intracellular amyloid‐β production by making amyloid precursor protein less available to α‐secretase

2007 • 61 citations

INTRAFAMILIAL DIVERSITY OF PHENOTYPE ASSOCIATED WITH APP DUPLICATION

2008 • 60 citations

Alzheimer's Disease

1966 • 60 citations

Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucineright-arrowserine (L250S) substitution at codon 250 of the presenilin 1 gene

1998 • 54 citations

Applying Epigenetics to Alzheimer’s Disease via the Latent Early–life Associated Regulation (LEARn) Model

2012 • 52 citations

Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations

2012 • 51 citations

Identification of New Presenilin Gene Mutations in Early-Onset Familial Alzheimer Disease

2003 • 46 citations

An Iranian family with Alzheimer’s disease caused by a novel APP mutation (Thr714Ala)

2002 • 45 citations

Novel Presenilin 1 Mutations Associated With Early Onset of Dementia in a Family With Both Early-Onset and Late-Onset Alzheimer Disease

2000 • 42 citations

White matter microstructural damage in Alzheimer's disease at different ages of onset

2013 • 41 citations

Genetic Influences on Atrophy Patterns in Familial Alzheimer's Disease: A Comparison of APP and PSEN1 Mutations

2013 • 38 citations

Time Course of Glucose Metabolism in Relation to Cognitive Performance and Postmortem Neuropathology in Met146Val PSEN1 Mutation Carriers

2011 • 35 citations

Prevalence and Demographic Features of Early-Onset Neurodegenerative Dementia in Brescia County, Italy

2011 • 33 citations

Relationship of Amyloid-Beta Burden With Age-At-Onset in Alzheimer Disease

2010 • 32 citations

Dementia, delusions and seizures: storage disease or genetic AD?

2007 • 31 citations

FAMILIAL PRESENILE DEMENTIA: REPORT OF CASE WITH CLINICAL AND PATHOLOGICAL FEATURES OF ALZHEIMER'S DISEASE

1939 • 30 citations

Differences in Routine Clinical Practice between Early and Late Onset Alzheimer's Disease: Data from the Swedish Dementia Registry (SveDem)

2014 • 29 citations

A novel PSEN1 mutation (K239N) associated with Alzheimer’s disease with wide range age of onset and slow progression

2010 • 27 citations

A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations

2004 • 24 citations

Early-onset dementias: clinical, neuropathological and genetic characteristics

1996 • 23 citations

A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion

2003 • 22 citations

A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis

2004 • 21 citations

Cognitive correlates of cerebrospinal fluid biomarkers in frontotemporal dementia

2012 • 21 citations

Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - case report and review of the literature.

2008 • 16 citations

Does Early-Onset Alzheimer Disease Constitute a Distinct Subtype? The Contribution of Molecular Genetics

1995 • 11 citations

Different Clinical Phenotypes in Siblings with a Presenilin-1 P264L Mutation

2012 • 9 citations

THE SPECTRUM OF DEMENTIA: A COMPARISON OF THE CLINICAL FEATURES OF AIDS/DEMENTIA AND DEMENTIA OF THE ALZHEIMER TYPE

1987 • 8 citations