Early Onset Alzheimer's Disease: Genetic Insights - August 5, 2015

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Alzheimer's Disease

Early Onset Alzheimer's Disease: Genetic Insights - August 5, 2015

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Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
Nicolas G, Eur J Human Genetic, August 5, 2015

Younger adults with Alzheimer's are key to drug search,National Public Radio, Jul 23

Dominantly inherited Alzheimer’s trial unit

Genetic testing and counseling in the diagnosis and management of young-onset dementias.
Goldman JS et al. Psychiatr. Clin. North Am. 2015 Jun (2) 295-308

Autosomal dominant Alzheimer disease: A unique resource to study CSF biomarker changes in preclinical AD.
Schindler SE et al. Front Neurol 2015 142

Brain imaging and blood biomarker abnormalities in children with autosomal dominant Alzheimer disease: A cross-sectional study.
Quiroz YT et al. JAMA Neurol 2015 Jun 29.

R47H variant of TREM2 associated with Alzheimer disease in a large late-onset family: Clinical, genetic, and neuropathological study.
Korvatska O et al. JAMA Neurol 2015 Jun 15.

Diagnostic value of subjective memory complaints assessed with a single item in dominantly inherited Alzheimer's disease: Results of the DIAN study.
Laske C et al. Biomed Res Int 2015 828120

Early behavioural changes in familial Alzheimer's disease in the Dominantly Inherited Alzheimer Network.
Ringman JM et al. Brain 2015 Apr (Pt 4) 1036-45

Associations between biomarkers and age in the presenilin 1 E280A autosomal dominant Alzheimer disease kindred: a cross-sectional study.
Fleisher AS et al. JAMA Neurol 2015 Mar (3) 316-24

Alzheimer's Disease: Genomic Insights - June 18, 2015

Associations between potentially modifiable risk factors and Alzheimer disease: A Mendelian randomization study.
Østergaard Søren D et al. PLoS Med. 2015 Jun (6) e1001841

Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses.
Mukherjee S et al. Alzheimers Dement 2015 Jun 12.

Prevalence of Amyloid PET positivity in dementia syndromes: A meta-analysis
Ossenkoppele R et al, JAMA May 19, 2015

Prevalence of cerebral amyloid pathology in persons without dementia: A meta-analysis
Jansen WJ et al, JAMA, May 19, 2015

Defining amyloid pathology in persons with and without dementia syndromes - making the right diagnosis 
Rosenberg RN , JAMA May 19, 2015

NIH summit delivers recommendations to transform Alzheimer's disease research, May 1

Recommendations from the NIH Alzheimer's Disease Research Summit 2015

National plan to address Alzheimer's disease: 2014 update

Additional mechanisms conferring genetic susceptibility to Alzheimer's disease.
Calero M et al. Front Cell Neurosci 2015 138

Predicting Alzheimer's disease using combined imaging-whole genome SNP data.
Kong D et al. J. Alzheimers Dis. 2015 Apr 13.

Polygenic overlap between C-reactive protein, plasma lipids and Alzheimer's disease.
Desikan RS et al. Circulation 2015 Apr 10.

PLD3 gene variants and Alzheimer's disease.
Hooli BV et al. Nature 2015 Apr 2. (7545) E7-8

PLD3 in non-familial Alzheimer's disease.
Heilmann S et al. Nature 2015 Apr 2. (7545) E3-5

PLD3 variants in population studies.
van der Lee SJ et al. Nature 2015 Apr 2. (7545) E2-3

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study.
Cuyvers E et al. Neurobiol. Aging 2015 May (5) 2005.e15-22

A novel Alzheimer disease locus located near the gene encoding tau protein.
Jun G et al. Mol. Psychiatry 2015 Mar 17.

The biomarker and therapeutic potential of miRNA in Alzheimer's disease.
Bekris LM et al. Neurodegener Dis Manag 2015 Feb (1) 61-74

Alzheimer's Disease: Genomic Insights - March 3, 2015

Personalized Medicine for Effective Alzheimer Disease Treatment.
Kosik Kenneth S et al. JAMA Neurol 2015 Mar 2.

Association of Alzheimer's disease GWAS loci with MRI markers of brain aging.
Chauhan Ganesh et al. Neurobiol. Aging 2015 Jan 6.

Examination of candidate exonic variants for association to Alzheimer disease in the Amish.
D'Aoust Laura N et al. PLoS ONE 2015 (2) e0118043

The influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease.
Louwersheimer Eva et al. Neurobiol. Aging 2014 Dec 11.

Identifying genetic interactions associated with late-onset Alzheimer's disease.
Floudas Charalampos S et al. BioData Min 2014 (1) 35

Genetic determinants of survival in patients with Alzheimer's disease.
Wang Xingbin et al. J. Alzheimers Dis. 2015 Feb 3.

Genome-wide studies of verbal declarative memory in nondemented older people: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium.
Debette Stéphanie et al. Biol. Psychiatry 2014 Nov 25.

Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949).
Davies G et al. Mol. Psychiatry 2015 Feb 3.

The effects of two polymorphisms on p21cip1 function and their association with Alzheimer's disease in a population of European descent.
Yates Sharon C et al. PLoS ONE 2015 (1) e0114050

Evaluation of candidate genes related to neuronal apoptosis in late-onset Alzheimer's disease.
Moreno-Grau Sonia et al. J. Alzheimers Dis. 2015 Jan 22.

Common genetic variants influence human subcortical brain structures.
Hibar Derrek P et al. Nature 2015 Jan 21.

Associations between biomarkers and age in the presenilin 1 E280A autosomal dominant Alzheimer disease kindred: A cross-sectional study.
Fleisher Adam S et al. JAMA Neurol 2015 Jan 12.

Convergent genetic and expression data implicate immunity in Alzheimer's disease.
International Genomics of Alzheimer's Disease Consortium (IGAP). Alzheimers Dement 2014 Dec 20.

Alzheimer's Disease: Recent Genomic Insights - December 4, 2014

A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death. 
Monica K Wetzel-Smith et al. Nature Medicine, November 24, 2014

Genetics of Alzheimer's disease.
Chouraki V, Seshadri S. Adv Genet. 2014;87:245-94.

Guidelines for the standardization of preanalytic variables for blood-based biomarker studies in Alzheimer's disease research.
O'Bryant SE et al. Alzheimers Dement. 2014 Sep 27. pii: S1552-5260(14)02765-4.

Alzheimer's test detects disease decade ahead of onset, by Megan Scudellari, Bloomberg News, Nov 17

New blood-based Alzheimer's biomarker panel uses exosomal miRNA, by Madeleine Johnson, GenomeWeb, Nov 21 [by free subscription only]

Alzheimer's Disease Awareness: Genetics and Family Health History - September 25, 2014

CDC information: September is World Alzheimer's Month- Risk factors for Alzheimer's disease include genetics

CDC report: 2013-2018 Road Map- The Healthy Brain Initiative

Alzheimer's disease genetics fact sheet, from the National Institute on Aging

Did you know? 1621 genes have been reported in relation to risk or outcomes of Alzheimer's disease, including 155 genomewide association studies? ApoE is the most commonly reported gene. To find out more, visit the HuGE Navigator

Find out what genetic conditions and tests are associated with Alzheimer's disease, NIH Genetic Testing Registry

Is Alzheimer's disease genetic? WebMD, July 2014 

Alzheimer's genes: Are you at risk? Several genes have been associated with Alzheimer's disease, but more research is needed, Mayo Clinic

Alzforum

Alzheimer's Disease and Genetics: Recent Insights - August 21, 2014

CDC information: Facts about Alzheimer's disease

CDC report: 2013-2018 Road Map- The Healthy Brain Initiative

Did you know? 1615 genes have beern reported in relation to risk our outcomes of Alzheimer's disease, including 149 genomewide association studies? ApoE is the most commonly reported gene. To find out more, visit the HuGE Navigator

Find out what genetic conditions and tests are associated with Alzheimer's disease, NIH Genetic Testing Registry

Recent Insights

Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. 
Chia-Chen Liu et al.  Nature Reviews Neurology 9, 106-118 (February 2013)

Is apolipoprotein E required for cognitive function in humans?  Implications for Alzheimer drug development
Courtney Lane-Donovan et al. JAMA Neurology, August 11, 2014

Delete ApoE gene, set back Alzheimer's, and preserve brain health? GEN News Highlights, Aug 12

Effects of the absence of apolipoprotein E on lipoproteins, neurocognitive function, and retinal function. 
Mak AC et al, JAMA Neurol. 2014 Aug 11. 

Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease. 
Katie Lunnon et al. Nature Neuroscience, August 18, 2014

Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci. 
Philip L De Jager et al. Nature Neuroscience, August 18, 2014