Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: ERL029
MIFTS: 59

Early-Onset, Autosomal Dominant Alzheimer Disease

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Mental diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section

MalaCards integrated aliases for Early-Onset, Autosomal Dominant Alzheimer Disease:

Name: Early-Onset, Autosomal Dominant Alzheimer Disease 53
Familial Alzheimer Disease 53 59 73
Early-Onset Familial Autosomal Dominant Alzheimer Disease 53 59
Early-Onset Autosomal Dominant Alzheimer Disease 53 59
Eofad 53 59
Alzheimer Disease Familial 29
Fad 53

Characteristics:

Orphanet epidemiological data:

59
early-onset autosomal dominant alzheimer disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases


Sources

Summaries for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section
NIH Rare Diseases : 53 Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. It is diagnosed in families that have more than one member with AD (usually multiple persons in more than one generation) in which the age of onset is consistently before age 60 and often between the ages of 30 and 60 years. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially.  There are three subtypes of early-onset familial AD which are each associated with changes (mutations) in unique genes: (1) Alzheimer disease, type 1 is caused by mutations in the APP gene (2) Alzheimer disease, type 3 is caused by mutations in the PSEN1 gene      (3) Alzheimer disease, type 4 is caused by mutations in the PSEN2 gene.  All subtypes are inherited in an autosomal dominant manner. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.  

MalaCards based summary : Early-Onset, Autosomal Dominant Alzheimer Disease, also known as familial alzheimer disease, is related to early-onset familial alzheimer disease and alzheimer disease. An important gene associated with Early-Onset, Autosomal Dominant Alzheimer Disease is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Presenilin-Mediated Signaling and Neuroscience. The drugs Clopidogrel and Nicotine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are agitation and hallucinations

Sources

Related Diseases for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section

Diseases in the Alzheimer Disease family:

Alzheimer Disease 2 Alzheimer Disease 16
Alzheimer Disease 5 Alzheimer Disease 6
Alzheimer Disease 7 Alzheimer Disease 4
Alzheimer Disease 8 Alzheimer Disease 3
Alzheimer Disease 9 Alzheimer Disease 10
Alzheimer Disease 11 Alzheimer Disease 12
Alzheimer Disease 13 Alzheimer Disease 14
Alzheimer Disease 15 Alzheimer Disease 17
Alzheimer Disease 18 Alzheimer Disease 19
Early-Onset Familial Alzheimer Disease Alzheimer Disease Type 1
Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 early-onset familial alzheimer disease 31.3 APP PSEN1 PSEN2
2 alzheimer disease 28.0 ABCA7 APP PSEN1 PSEN2 SORL1
3 alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology 12.0
4 alzheimer disease 4 10.4 PSEN1 PSEN2
5 visual agnosia 10.3 PSEN1 PSEN2
6 gait apraxia 10.3 APP PSEN1
7 familial isolated dilated cardiomyopathy 10.3 PSEN1 PSEN2
8 kluver-bucy syndrome 10.3 APP PSEN1
9 cerebral amyloid angiopathy, cst3-related 10.2 APP PSEN1
10 aphasia 10.2 APP PSEN1
11 progressive non-fluent aphasia 10.1 PSEN1 TREM2
12 pick disease of brain 10.1 APP PSEN1
13 behavioral variant of frontotemporal dementia 10.1 PSEN1 TREM2
14 semantic dementia 10.1 PSEN1 TREM2
15 supranuclear palsy, progressive, 1 10.0 APP PSEN1
16 basal ganglia disease 10.0 PSEN1 TREM2
17 vascular dementia 10.0 APP PSEN1
18 familial idiopathic basal ganglia calcification 9.9 APP PSEN1 PSEN2
19 alzheimer disease 2 9.9 APP PSEN1 PSEN2
20 central nervous system disease 9.9 APP PSEN1 PSEN2
21 nervous system disease 9.9 APP PSEN1 PSEN2
22 dementia, lewy body 9.8 APP PSEN1
23 disease of mental health 9.6 APP PSEN1
24 amyotrophic lateral sclerosis 1 9.3 APP PSEN1 TREM2
25 frontotemporal dementia 9.2 APP PSEN1 PSEN2 TREM2
26 dementia 8.6 APP PSEN1 PSEN2 SORL1 TREM2

Graphical network of the top 20 diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease:



Diseases related to Early-Onset, Autosomal Dominant Alzheimer Disease
Sources

Symptoms & Phenotypes for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section

Human phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agitation 59 32 hallmark (90%) Very frequent (99-80%) HP:0000713
2 hallucinations 59 32 hallmark (90%) Very frequent (99-80%) HP:0000738
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
5 confusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0001289
6 parkinsonism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001300
7 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
8 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
9 neurofibrillary tangles 59 32 hallmark (90%) Very frequent (99-80%) HP:0002185
10 memory impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002354
11 language impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002463
12 deposits immunoreactive to beta-amyloid protein 59 32 hallmark (90%) Very frequent (99-80%) HP:0003791
13 abnormal social behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0012433
14 disinhibition 59 32 frequent (33%) Frequent (79-30%) HP:0000734
15 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
16 oculomotor apraxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000657
17 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
18 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
19 aphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002381
20 finger agnosia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010525
21 dysgraphia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010526
22 semantic dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0030219
23 dementia 59 Very frequent (99-80%)
24 neurodevelopmental abnormality 59 Very frequent (99-80%)
25 apraxia 59 Occasional (29-5%)
26 abnormality of higher mental function 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 ABCA7 APP PSEN1 PSEN2 SORL1 TREM2
2 homeostasis/metabolism MP:0005376 9.1 ABCA7 APP PSEN1 PSEN2 SORL1 TREM2
Sources

Drugs & Therapeutics for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section

Drugs for Early-Onset, Autosomal Dominant Alzheimer Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 670)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clopidogrel Approved Phase 4,Phase 3,Not Applicable 120202-66-6, 113665-84-2 60606
2
Nicotine Approved Phase 4,Phase 2,Phase 1,Not Applicable 54-11-5 942 89594
3
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
4
Metformin Approved Phase 4,Phase 2 657-24-9 14219 4091
5
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 19982-08-2 4054
6
Rivastigmine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 123441-03-2 77991
7
Warfarin Approved Phase 4,Phase 3,Phase 1 81-81-2 6691 54678486
8
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 51-61-6, 62-31-7 681
9
Hydroxocobalamin Approved Phase 4,Phase 3,Phase 2,Not Applicable 13422-51-0 11953898 44475014
10
Galantamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 357-70-0 9651
11
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable 50-78-2 2244
12 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 979-32-8
13
Progesterone Approved, Vet_approved Phase 4,Phase 2,Phase 3 57-83-0 5994
14
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 106266-06-2 5073
15
Isoflurane Approved, Vet_approved Phase 4,Phase 1,Not Applicable 26675-46-7 3763
16
Huperzine A Approved, Investigational Phase 4,Phase 2,Phase 3 102518-79-6
17
Citalopram Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59729-33-8 2771
18
Ibuprofen Approved Phase 4,Phase 3,Phase 1,Early Phase 1 15687-27-1 3672
19
Levodopa Approved Phase 4,Phase 1,Phase 2,Not Applicable 59-92-7 6047
20
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 2078-54-8 4943
21
Rivaroxaban Approved Phase 4 366789-02-8
22
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 113-45-1 4158
23
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1994-09-7, 94-09-7 2337
24
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-28-2 5757
25
Donepezil Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 120014-06-4 3152
26
Medroxyprogesterone acetate Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 71-58-9
27
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
28
Polyestradiol phosphate Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 28014-46-2
29
Quinidine Approved, Investigational Phase 4,Phase 3,Phase 2 56-54-2 441074
30
Sertraline Approved Phase 4,Phase 2,Phase 3,Not Applicable 79617-96-2 68617
31
Trandolapril Approved Phase 4 87679-37-6 5484727
32
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1 79902-63-9 54454
33
Verapamil Approved Phase 4,Phase 1 52-53-9 2520
34
Ramipril Approved Phase 4 87333-19-5 5362129
35
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-84-3 187
36
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
37
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
38
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
39
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
40
Modafinil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 68693-11-8 4236
41
Norepinephrine Approved Phase 4,Phase 1,Not Applicable 51-41-2 439260
42
Olanzapine Approved, Investigational Phase 4,Not Applicable 132539-06-1 4585
43
Gabapentin Approved, Investigational Phase 4,Not Applicable 60142-96-3 3446
44
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
45 Piracetam Approved, Investigational Phase 4,Phase 2,Not Applicable 7491-74-9
46
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
47
Iodine Approved, Investigational Phase 4,Not Applicable 7553-56-2 807
48
Rasagiline Approved Phase 4,Phase 2 136236-51-6 3052776
49
Valproic Acid Approved, Investigational Phase 4,Phase 3,Early Phase 1 99-66-1 3121
50
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603

Interventional clinical trials:

(show top 50) (show all 2422)
# Name Status NCT ID Phase Drugs
1 Diffusion Tensor Weighted MRI in Alzheimer's Disease Modifying Treatment Effects of Galantamine (Reminyl®) Unknown status NCT00523666 Phase 4 Galantamine (Reminyl®);Placebo/Galantamine (Reminyl®)
2 Effect of Memantine Oral Pump on Language in Patients With Probable Alzheimer's Disease Unknown status NCT01849042 Phase 4 Ebixa;donepezil
3 Effect of Cognitive Intervention in Alzheimer's Disease (AD) on Functional Cortical Networks in fMRI Unknown status NCT01329601 Phase 4
4 Donepezil and Memantine in Moderate to Severe Alzheimer's Disease Unknown status NCT00866060 Phase 4 Memantine;Donepezil;Placebo donepezil;Placebo memantine
5 Open Label Trial of Rivastigmine Patch in Subjects With Mild to Moderate Stage AD Having Coexisting svCVD Unknown status NCT02444637 Phase 4 Rivastigmine
6 The Relationship Between Risperdal Treatment and Quality of Life in Patients With Alzheimer's Disease and Behavioural and Psychological Symptoms of Dementia (BPSD) Unknown status NCT00626613 Phase 4 Risperdal,reminyl
7 Study of Escitalopram Versus Placebo in the Treatment of Depressive Syndrome in Alzheimer’s Disease, Vascular Dementia, and Mixed Vascular and Alzheimer’s Dementia Unknown status NCT00229333 Phase 4 Escitalopram
8 CALM-AD Unknown status NCT00142324 Phase 4 Donepezil
9 Rivaroxaban in Patients With Atrial Fibrillation and Coronary Artery Disease Undergoing Percutaneous Coronary Intervention Unknown status NCT02334254 Phase 4 rivaroxaban and ticagrel therapy;triple antithrombotic regimen with warfarin, asipirin and clopidogrel
10 Dopaminergic Enhancement of Learning and Memory in Healthy Adults and Patients With Dementia/Mild Cognitive Impairment Unknown status NCT00306124 Phase 4 Levodopa
11 Pharmacodynamic Effects of Atorvastatin vs. Rosuvastatin on Platelet Reactivity Unknown status NCT01567774 Phase 4 Atorvastatin;Rosuvastatin
12 Memantine for Agitation in Dementia Unknown status NCT00371059 Phase 4 Memantine;Placebo
13 Huperzine-A to Help With Mental Problems and the Inability to Care for Onself in Patients With Schizophrenia Unknown status NCT01012830 Phase 4 Huperzine A
14 Insulin Resistance and Mild Cognitive Impairment (IRMCI) Study Unknown status NCT02409238 Phase 4 Metformin
15 Gastrodin Prevents Cognitive Decline Related to Cardiopulmonary Bypass Unknown status NCT00297245 Phase 4 cognitive function
16 Transcranial Magnetic Stimulation for Apathy in Mild Cognitive Impairment:Pilot Study Unknown status NCT02190019 Phase 4
17 Memantine for Post-Operative Pain Control Unknown status NCT01041313 Phase 4 Memantine;Placebo
18 Multi-centre Clinical Trial on Hormone Replacement Treatment in China Unknown status NCT01698164 Phase 4 estradiol plus MPA;Ximingting Tablet;estradiol plus progesterone
19 Efficacy, Safety and Tolerability of Rivastigmine Patch in Patients With Mild to Moderate Alzheimer's Disease Switched From Cholinesterase Inhibitors Completed NCT01529619 Phase 4 Rivastigmine transdermal patch
20 Effects of Rivastigmine Patch on Activities of Daily Living and Cognition in Patients With Severe Dementia of the Alzheimer's Type (ACTION) (Study Protocol CENA713DUS44, NCT00948766) and a 24 Week Open-label Extension to Study CENA713DUS44 Completed NCT00948766 Phase 4 Rivastigmine 4.6 mg/24 h (5 cm^2);Rivastigmine 9.5 mg/24 h (10 cm^2);Rivastigmine 13.3 mg/24 h (15 cm^2);Placebo
21 16w Interventional Study on Titration and Dose/Efficacy Assessment of Exelon in Chinese Alzheimer's Disease Patients Completed NCT01948791 Phase 4 ENA713
22 NextStep:Study to Evaluate Safety,Efficacy & Tolerability of Rivastigmine Patch in Mild to Moderate Alzheimer's Patients. Completed NCT02703636 Phase 4 Rivastigmine Patch
23 The Clinical Response of Choline Acetyltransferase and Apolipoprotein Epsilon Gene Polymorphisms to Donepezil in Alzheimer's Disease Completed NCT00381381 Phase 4 Donepezil
24 Tolerability of Rivastigmine Before and After Switching From Oral Formulation to Transdermal Patch in Alzheimer's Dementia Completed NCT01585272 Phase 4 ENA713
25 Trial of Carvedilol in Alzheimer's Disease Completed NCT01354444 Phase 4 Carvedilol;Placebo
26 The Efficacy of Galantamine Treatment on Attention in Patients With Alzheimer's Disease Completed NCT01054976 Phase 4 Galantamine
27 Compliance and Tolerability of Rivastigmine Transdermal Patch 10 cm² in Patients With Probable Alzheimer's Disease. Completed NCT00731224 Phase 4 Rivastigmine transdermal patch
28 Safety and Efficacy of Donepezil HCl 23 mg in Patients With Moderate to Severe Alzheimer's Disease Completed NCT02097056 Phase 4 Donepezil HCL
29 Memantine and Comprehensive, Individualized Management of Alzheimer's Disease and Caregiver Training Completed NCT00120874 Phase 4 Memantine
30 Escitalopram for the Treatment of Depression in Alzheimer's Disease Completed NCT01841125 Phase 4 escitalopram;Placebo
31 Double Blind Study of Trp01 in Patients With Alzheimer's Disease Completed NCT00202124 Phase 4 Tryptophan
32 Delaying the Progression of Driving Impairment in Individuals With Mild Alzheimer's Disease Completed NCT00476008 Phase 4 Memantine;Placebo
33 Clinical Effectiveness of 10 cm^2 Rivastigmine Patch in Patients With Alzheimer's Disease Completed NCT00561392 Phase 4 Rivastigmine 5 and 10 cm^2 patch
34 A Study of the Effects on Sleep, Attention, and Gastrointestinal Tolerance of Galantamine and Donepezil in Patients With Alzheimer's Disease Completed NCT00035204 Phase 4 galantamine
35 Neural Correlates In Mild Alzheimer's Disease Completed NCT00477659 Phase 4 donepezil HCl (Aricept)
36 Magnetic Resonance Spectroscopy Study of Memantine in Alzheimer's Disease Completed NCT00551161 Phase 4 memantine
37 Study of the Effects of Current Drug Treatments on Levels of Certain Brain Chemicals in Alzheimer's Disease Completed NCT00104442 Phase 4 Rivastigmine
38 A 12 Week, Multicenter, Open Label Evaluation of Caregiver Preference, Safety and Tolerability of Exelon® Patch (Rivastigmine Transdermal) in Patients With Alzheimer's Disease Completed NCT01047579 Phase 4 Rivastigmine transdermal
39 Evaluation of Efficacy and Safety of Galantamine in Patients With Dementia of Alzheimer's Type Who Failed to Benefit From Donepezil Completed NCT01478633 Phase 4 Galantamine
40 Effect of Memantine on Functional Communication in Patients With Alzheimer's Disease Completed NCT00469456 Phase 4 Memantine;placebo
41 A 24 Week, Multicenter, Open, Evaluation of the Clinical Effectiveness of the Once-daily 10 cm^2 Rivastigmine Patch Formulation in Patients With Probable Alzheimer's Disease (EXTRA) Completed NCT00622713 Phase 4 Rivastigmine transdermal patch
42 Neptune Krill Oil (NKO™) in Early Stage Alzheimer's Disease (MNEMOSYNE) Completed NCT00867828 Phase 4
43 Study of Memantine in Assessment of Selected Measures of Volumetric Magnetic Resonance Imaging (MRI) and Cognition in Moderate AD (Alzheimer's Disease) Completed NCT00334906 Phase 4 memantine HCl
44 EARTH 413: A Study of Aricept in Hispanic Patients With Mild to Moderate Alzheimer's Disease (AD) Completed NCT00230568 Phase 4 Aricept
45 The Efficacy of Galantamine on the Attention and the Frontal Function of the Patients With Dementia of Alzheimer Type Completed NCT00216515 Phase 4 galantamine hydrobromide
46 A Positron Emission Tomography (PET) Study Evaluating Brain Metabolism of a Medical Food in Alzheimer's Disease Completed NCT01122329 Phase 4
47 Memantine for Agitation and Aggression in Severe Alzheimer's Disease Completed NCT00401167 Phase 4 memantine
48 The Effectiveness And Safety Of Donepezil Hydrochloride (E2020) In Subjects With Mild To Severe Alzheimer's Disease Residing In An Assisted Living Facility Completed NCT00571064 Phase 4 Donepezil HCl
49 The Efficacy of a Combination Regimen in Patients With Mild to Moderate Probable Alzheimer's Disease Completed NCT01921972 Phase 4 Galantamine CR;Memantine;Placebo
50 Interventional, Randomised, Double-blind, Study to Evaluate the Safety and Tolerability of Once Daily Versus Twice Daily Memantine Treatment in Patients With Dementia of Alzheimer's Type and Mini Mental State Examination (MMSE)Range 5 - 18 Completed NCT02553928 Phase 4 Memantine (once daily);Memantine (twice daily)

Search NIH Clinical Center for Early-Onset, Autosomal Dominant Alzheimer Disease

Sources

Genetic Tests for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section

Genetic tests related to Early-Onset, Autosomal Dominant Alzheimer Disease:

# Genetic test Affiliating Genes
1 Alzheimer Disease Familial 29
Sources

Anatomical Context for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section

MalaCards organs/tissues related to Early-Onset, Autosomal Dominant Alzheimer Disease:

41
Brain, Testes, Eye, Breast, Prostate, Kidney, Liver
Sources

Publications for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section

Articles related to Early-Onset, Autosomal Dominant Alzheimer Disease:

(show top 50) (show all 68)
# Title Authors Year
1
Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration. ( 29070659 )
2017
2
Polygenic risk scores in familial Alzheimer disease. ( 28213371 )
2017
3
Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene. ( 28595629 )
2017
4
Expression of familial Alzheimer disease presenilin 1 gene attenuates vesicle traffic and reduces peptide secretion in cultured astrocytes devoid of pathologic tissue environment. ( 26462451 )
2016
5
Autophagic and lysosomal defects in human tauopathies: analysis of post-mortem brain from patients with familial Alzheimer disease, corticobasal degeneration and progressive supranuclear palsy. ( 26936765 )
2016
6
Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics. ( 26214276 )
2015
7
Suppressor Mutations for Presenilin 1 Familial Alzheimer Disease Mutants Modulate I^-Secretase Activities. ( 26559975 )
2015
8
Converging approaches to understanding early onset familial Alzheimer disease: A First Nation study. ( 27092264 )
2015
9
Cell signaling abnormalities may drive neurodegeneration in familial Alzheimer disease. ( 23436150 )
2014
10
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease. ( 24582897 )
2014
11
[Study of mutations of presenilin 1 gene in early-onset familial Alzheimers disease]. ( 24928006 )
2014
12
Relative ratio and level of amyloid-I^ 42 surrogate in cerebrospinal fluid of familial Alzheimer disease patients with presenilin 1 mutations. ( 24192669 )
2014
13
Clinical and neuropathological findings in a patient with familial Alzheimer disease showing a mutation in the PSEN1 gene. ( 22882713 )
2013
14
The mechanism of I^-Secretase dysfunction in familial Alzheimer disease. ( 22505025 )
2012
15
Evidence for premature lipid raft aging in APP/PS1 double-transgenic mice, a model of familial Alzheimer disease. ( 22975585 )
2012
16
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of I^-secretase. ( 22461631 )
2012
17
Genetic counseling for early-onset familial Alzheimer disease in large Aboriginal kindred from a remote community in British Columbia: unique challenges and possible solutions. ( 20927575 )
2011
18
[Familial Alzheimer disease]. ( 22755192 )
2011
19
A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity. ( 20460383 )
2010
20
A DNA methylation study of the amyloid precursor protein gene in several brain regions from patients with familial Alzheimer disease. ( 20919856 )
2010
21
Aberrant amyloid precursor protein (APP) processing in hereditary forms of Alzheimer disease caused by APP familial Alzheimer disease mutations can be rescued by mutations in the APP GxxxG motif. ( 20452985 )
2010
22
Caspase-6 activation in familial alzheimer disease brains carrying amyloid precursor protein or presenilin i or presenilin II mutations. ( 19915487 )
2009
23
Transactive response DNA-binding protein 43 burden in familial Alzheimer disease and Down syndrome. ( 20008652 )
2009
24
Intramembrane proteolysis of GXGD-type aspartyl proteases is slowed by a familial Alzheimer disease-like mutation. ( 18768471 )
2008
25
Enzymatic characteristics of I213T mutant presenilin-1/gamma-secretase in cell models and knock-in mouse brains: familial Alzheimer disease-linked mutation impairs gamma-site cleavage of amyloid precursor protein C-terminal fragment beta. ( 18430735 )
2008
26
Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1. ( 18580586 )
2008
27
Biochemical markers in persons with preclinical familial Alzheimer disease. ( 18509095 )
2008
28
Generation of Abeta38 and Abeta42 is independently and differentially affected by familial Alzheimer disease-associated presenilin mutations and gamma-secretase modulation. ( 17962197 )
2008
29
Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1. ( 17431506 )
2007
30
Variability of age at onset in siblings with familial Alzheimer disease. ( 18071037 )
2007
31
The heritability of abstract reasoning in Caribbean Latinos with familial Alzheimer disease. ( 17938569 )
2007
32
Familial Alzheimer disease in Latinos: interaction between APOE, stroke, and estrogen replacement. ( 16401842 )
2006
33
MRS shows abnormalities before symptoms in familial Alzheimer disease. ( 16534109 )
2006
34
Apolipoprotein E epsilon4 and age at onset of sporadic and familial Alzheimer disease in Caribbean Hispanics. ( 17101827 )
2006
35
LR11/SorLA expression is reduced in sporadic Alzheimer disease but not in familial Alzheimer disease. ( 16957580 )
2006
36
Formation of tau inclusions in knock-in mice with familial Alzheimer disease (FAD) mutation of presenilin 1 (PS1). ( 16377636 )
2006
37
Novel mutations and repeated findings of mutations in familial Alzheimer disease. ( 15776278 )
2005
38
Presenilin mutations in familial Alzheimer disease and transgenic mouse models accelerate neuronal lysosomal pathology. ( 15330337 )
2004
39
Genetic influences on memory performance in familial Alzheimer disease. ( 14872023 )
2004
40
The presenilin-1 familial Alzheimer disease mutant P117L impairs neurogenesis in the hippocampus of adult mice. ( 15246822 )
2004
41
Familial Alzheimer disease associated with A713T mutation in APP. ( 15488330 )
2004
42
Familial Alzheimer disease-linked presenilin 1 variants enhance production of both Abeta 1-40 and Abeta 1-42 peptides that are only partially sensitive to a potent aspartyl protease transition state inhibitor of "gamma-secretase". ( 12493731 )
2003
43
DNA synthesis and neuronal apoptosis caused by familial Alzheimer disease mutants of the amyloid precursor protein are mediated by the p21 activated kinase PAK3. ( 12890786 )
2003
44
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. ( 14623725 )
2003
45
Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. ( 11708991 )
2001
46
Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain. ( 11165779 )
2001
47
Alpha-synuclein in familial Alzheimer disease: epitope mapping parallels dementia with Lewy bodies and Parkinson disease. ( 11708989 )
2001
48
Early-onset familial Alzheimer disease with coexisting beta-amyloid and prion pathology. ( 10755493 )
2000
49
Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I. ( 10822446 )
2000
50
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. ( 10441572 )
1999
Sources

Variations for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section
Sources

Expression for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section
Search GEO for disease gene expression data for Early-Onset, Autosomal Dominant Alzheimer Disease.
Sources

Pathways for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section

Pathways related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Presenilin-Mediated Signaling 64
11.7 APP PSEN1 PSEN2
2
Neuroscience 4
11.56 APP PSEN1 PSEN2 SORL1 TREM2
3
p75(NTR)-mediated signaling 1
Show member pathways
 11.25 APP PSEN1
4
A-beta Signaling Pathways 65
11.17 APP PSEN1 PSEN2
5
Alzheimers Disease Pathway 64
10.99 APP PSEN1 PSEN2
6
Canonical and Non-canonical Notch signaling 1
10.84 PSEN1 PSEN2
7
A-beta Pathways: Plaque Formation and APP Metabolism 65
10.49 APP PSEN1 PSEN2
8
Notch Pathway 72
10.02 PSEN1 PSEN2
Sources

GO Terms for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section

Cellular components related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.77 ABCA7 APP PSEN1 PSEN2 SORL1
2 cell surface GO:0009986 9.73 ABCA7 APP PSEN1 PSEN2
3 mitochondrial inner membrane GO:0005743 9.71 PSEN1 PSEN2 TOMM40
4 Golgi membrane GO:0000139 9.71 ABCA7 PSEN1 PSEN2 SORL1
5 axon GO:0030424 9.69 APP PSEN1 PSEN2
6 membrane raft GO:0045121 9.65 APP PSEN1 PSEN2
7 rough endoplasmic reticulum GO:0005791 9.52 APP PSEN1
8 growth cone GO:0030426 9.5 APP PSEN1 PSEN2
9 smooth endoplasmic reticulum GO:0005790 9.46 APP PSEN1
10 neuromuscular junction GO:0031594 9.33 APP PSEN1 PSEN2
11 nuclear envelope lumen GO:0005641 9.26 APP SORL1
12 dendritic shaft GO:0043198 9.13 APP PSEN1 PSEN2
13 ciliary rootlet GO:0035253 8.8 APP PSEN1 PSEN2
14 integral component of membrane GO:0016021 10.04 ABCA7 APP PSEN1 PSEN2 SORL1 TOMM40

Biological processes related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.77 ABCA7 APP TREM2
2 cellular protein metabolic process GO:0044267 9.76 APP PSEN1 SORL1
3 Notch signaling pathway GO:0007219 9.67 APP PSEN1 PSEN2
4 cholesterol metabolic process GO:0008203 9.65 APP SORL1
5 positive regulation of catalytic activity GO:0043085 9.65 PSEN1 PSEN2
6 ephrin receptor signaling pathway GO:0048013 9.65 PSEN1 PSEN2
7 memory GO:0007613 9.64 ABCA7 PSEN1
8 protein processing GO:0016485 9.64 PSEN1 PSEN2
9 forebrain development GO:0030900 9.63 APP PSEN1
10 positive regulation of protein binding GO:0032092 9.63 APP PSEN1
11 learning or memory GO:0007611 9.62 APP PSEN1
12 synapse organization GO:0050808 9.62 APP PSEN1
13 neuron apoptotic process GO:0051402 9.61 APP PSEN1
14 positive regulation of phosphorylation GO:0042327 9.61 APP PSEN1
15 cellular response to amyloid-beta GO:1904646 9.59 APP PSEN1
16 membrane protein ectodomain proteolysis GO:0006509 9.58 PSEN1 PSEN2
17 regulation of protein binding GO:0043393 9.57 APP PSEN1
18 membrane protein intracellular domain proteolysis GO:0031293 9.56 PSEN1 PSEN2
19 protein maturation GO:0051604 9.55 PSEN1 SORL1
20 Notch receptor processing GO:0007220 9.54 PSEN1 PSEN2
21 amyloid-beta metabolic process GO:0050435 9.52 PSEN1 PSEN2
22 Notch receptor processing, ligand-dependent GO:0035333 9.51 PSEN1 PSEN2
23 negative regulation of amyloid-beta formation GO:1902430 9.48 ABCA7 SORL1
24 astrocyte activation GO:0048143 9.46 APP PSEN1
25 amyloid precursor protein catabolic process GO:0042987 9.43 PSEN1 PSEN2
26 modulation of age-related behavioral decline GO:0090647 9.4 APP PSEN1
27 neuron projection maintenance GO:1990535 9.37 APP PSEN1
28 positive regulation of amyloid fibril formation GO:1905908 9.32 APP PSEN1
29 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.26 APP PSEN1
30 astrocyte activation involved in immune response GO:0002265 9.16 APP PSEN1
31 negative regulation of low-density lipoprotein receptor activity GO:1905598 8.96 APP PSEN1
32 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 8.62 APP PSEN1

Molecular functions related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 9.16 PSEN1 PSEN2
2 aspartic-type endopeptidase activity GO:0004190 8.96 PSEN1 PSEN2
3 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.62 PSEN1 PSEN2
Sources

Sources for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....