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FAD
MCID: ERL029
MIFTS: 61

Early-Onset, Autosomal Dominant Alzheimer Disease (FAD)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Early-Onset, Autosomal Dominant Alzheimer Disease

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

Name: Early-Onset, Autosomal Dominant Alzheimer Disease 54
Familial Alzheimer Disease 54 60 74
Early-Onset Familial Autosomal Dominant Alzheimer Disease 54 60
Early-Onset Autosomal Dominant Alzheimer Disease 54 60
Eofad 54 60
Alzheimer Disease Familial 30
Fad 54

Characteristics:

Orphanet epidemiological data:

60
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 Cardiovascular diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases


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Summaries for Early-Onset, Autosomal Dominant Alzheimer Disease

About this section
NIH Rare Diseases : 54 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 alzheimer disease 2 and alzheimer disease 4. 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 Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are seizures and hallucinations

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Related Diseases for Early-Onset, Autosomal Dominant Alzheimer Disease

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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
Alzheimer's Disease 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 38)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 2 32.9 APP PSEN1 PSEN2
2 alzheimer disease 4 32.2 PSEN1 PSEN2
3 alzheimer disease 29.2 ABCA7 APP PSEN1 PSEN2 SORL1
4 frontotemporal dementia 29.1 APP PSEN1 PSEN2 TREM2
5 dementia 28.9 APP PSEN1 PSEN2 SORL1 TREM2
6 alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology 12.2
7 alzheimer disease 3 11.5
8 alzheimer disease 5 11.4
9 alzheimer disease 7 11.3
10 alzheimer disease 8 11.3
11 alzheimer disease 10 11.3
12 alzheimer disease 12 11.3
13 alzheimer disease 11 11.2
14 dural sinus malformation 10.4
15 aphasia 10.1 APP PSEN1
16 gait apraxia 10.1 APP PSEN1
17 visual agnosia 10.1 PSEN1 PSEN2
18 kohlschutter-tonz syndrome 10.1 APP PSEN1
19 familial isolated dilated cardiomyopathy 10.1 PSEN1 PSEN2
20 kluver-bucy syndrome 10.1 APP PSEN1
21 pick disease of brain 10.1 APP PSEN1
22 cerebral amyloid angiopathy, cst3-related 10.0 APP PSEN1
23 down syndrome 10.0
24 aging 10.0
25 vascular dementia 10.0 APP PSEN1
26 progressive non-fluent aphasia 9.9 PSEN1 TREM2
27 behavioral variant of frontotemporal dementia 9.9 PSEN1 TREM2
28 dementia, lewy body 9.9 APP PSEN1
29 semantic dementia 9.9 PSEN1 TREM2
30 parkinson disease, late-onset 9.8
31 metachromatic leukodystrophy 9.8
32 supranuclear palsy, progressive, 1 9.8
33 leukodystrophy 9.8
34 microcephaly 9.8
35 corticobasal degeneration 9.8
36 spastic paraparesis 9.8
37 disease of mental health 9.8 APP PSEN1
38 amyotrophic lateral sclerosis 1 9.5 APP PSEN1 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
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Symptoms & Phenotypes for Early-Onset, Autosomal Dominant Alzheimer Disease

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

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 hallucinations 60 33 hallmark (90%) Very frequent (99-80%) HP:0000738
3 hypertonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001276
4 myoclonus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001336
5 cerebral cortical atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002120
6 memory impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002354
7 agitation 60 33 hallmark (90%) Very frequent (99-80%) HP:0000713
8 abnormal social behavior 60 33 hallmark (90%) Very frequent (99-80%) HP:0012433
9 confusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0001289
10 parkinsonism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001300
11 neurofibrillary tangles 60 33 hallmark (90%) Very frequent (99-80%) HP:0002185
12 language impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002463
13 deposits immunoreactive to beta-amyloid protein 60 33 hallmark (90%) Very frequent (99-80%) HP:0003791
14 disinhibition 60 33 frequent (33%) Frequent (79-30%) HP:0000734
15 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
16 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
17 abnormality of vision 60 33 occasional (7.5%) Occasional (29-5%) HP:0000504
18 aphasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002381
19 dysgraphia 60 33 occasional (7.5%) Occasional (29-5%) HP:0010526
20 oculomotor apraxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000657
21 finger agnosia 60 33 occasional (7.5%) Occasional (29-5%) HP:0010525
22 semantic dementia 60 33 occasional (7.5%) Occasional (29-5%) HP:0030219
23 apraxia 60 Occasional (29-5%)
24 dementia 60 Very frequent (99-80%)
25 neurodevelopmental abnormality 60 Very frequent (99-80%)
26 abnormality of higher mental function 60 Occasional (29-5%)

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

47
# 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

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

(show top 50) (show all 736)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 62-31-7, 51-61-6 681
2
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 19982-08-2 4054
3
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 94-09-7, 1994-09-7 2337
4
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1401-55-4
5
Donepezil Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 120014-06-4 3152
6
Galantamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 357-70-0 9651
7
Acetylcarnitine Approved, Investigational Phase 4,Phase 2 3040-38-8 7045767
8
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 106266-06-2 5073
9
Citalopram Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59729-33-8 2771
10
Rivastigmine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 123441-03-2 77991
11
Huperzine A Approved, Experimental Phase 4,Phase 2,Phase 3 102518-79-6
12
Rivaroxaban Approved Phase 4 366789-02-8
13
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable 50-78-2 2244
14
Clopidogrel Approved Phase 4,Phase 3,Not Applicable 120202-66-6, 113665-84-2 60606
15
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
16
Warfarin Approved Phase 4,Phase 3,Phase 1 81-81-2 6691 54678486
17
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1 79902-63-9 54454
18
Levodopa Approved Phase 4,Phase 1,Phase 2,Not Applicable 59-92-7 6047
19
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
20
Atorvastatin Approved Phase 4,Phase 3,Phase 2 134523-00-5 60823
21
Metformin Approved Phase 4,Phase 2,Early Phase 1 657-24-9 14219 4091
22
Polyestradiol phosphate Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 28014-46-2
23
Medroxyprogesterone acetate Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 71-58-9
24
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-28-2 5757
25
Progesterone Approved, Vet_approved Phase 4,Phase 2,Phase 3 57-83-0 5994
26
Nicotine Approved Phase 4,Phase 2,Phase 1,Not Applicable 54-11-5 942 89594
27
Ibuprofen Approved Phase 4,Phase 3,Phase 1,Early Phase 1 15687-27-1 3672
28
Hydroxocobalamin Approved Phase 4,Phase 3,Phase 2,Not Applicable 13422-51-0 11953898 15589840
29
Methylcobalamin Approved, Experimental, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 13422-55-4
30
Lithium carbonate Approved Phase 4,Phase 2,Phase 1,Not Applicable 554-13-2
31
Sodium Citrate Approved, Investigational Phase 4,Phase 3,Not Applicable 68-04-2
32
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 2078-54-8 4943
33
Carvedilol Approved, Investigational Phase 4,Phase 2 72956-09-3 2585
34
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 113-45-1 4158
35
Dextroamphetamine Approved, Illicit Phase 4,Phase 3 51-64-9 5826
36
Cilostazol Approved, Investigational Phase 4,Phase 2,Phase 3 73963-72-1 2754
37
Haloperidol Approved Phase 4,Phase 3 52-86-8 3559
38
Ramipril Approved Phase 4 87333-19-5 5362129
39
Sertraline Approved Phase 4,Phase 2,Phase 3,Not Applicable 79617-96-2 68617
40
Pravastatin Approved Phase 4 81093-37-0 54687
41
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
42
Norepinephrine Approved Phase 4,Phase 1,Not Applicable 51-41-2 439260
43
Olanzapine Approved, Investigational Phase 4,Not Applicable 132539-06-1 4585
44
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 1 129722-12-9 60795
45
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
46
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
47
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
48
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
49
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
50
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878

Interventional clinical trials:

(show top 50) (show all 2681)
# Name Status NCT ID Phase Drugs
1 Effect of Memantine Oral Pump on Language in Patients With Probable Alzheimer's Disease Unknown status NCT01849042 Phase 4 Ebixa;donepezil
2 Diffusion Tensor Weighted MRI in Alzheimer's Disease Modifying Treatment Effects of Galantamine (Reminyl®) Unknown status NCT00523666 Phase 4 Galantamine (Reminyl®);Placebo/Galantamine (Reminyl®)
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 Assessment the Efficacy of Acetyl-L-carnitine in Patient With Alzheimer's Disease Unknown status NCT02955706 Phase 4 Acetyl-L-Carnitine;Placebo of Acetyl-L-Carnitine
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 Open Label Trial of Rivastigmine Patch in Subjects With Mild to Moderate Stage AD Having Coexisting svCVD Unknown status NCT02444637 Phase 4 Rivastigmine
9 Early Diagnosis and Early Treatment of Alzheimer's Disease Based on Senile Plaque Imaging Unknown status NCT02931136 Phase 4 Huperzine A;Placebo
10 CALM-AD Unknown status NCT00142324 Phase 4 Donepezil
11 A Clinical Trial for an Evaluation of Choline Alfoscerate and Donepezil for Cognitive Improvements of Patients With Cerebrovascular Injury in Alzheimer Patients Unknown status NCT02648906 Phase 4 Choline alfoscerate;Placebo
12 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
13 Trial of Simvastatin in Amnestic Mild Cognitive Impairment (MCI) Patients Unknown status NCT00842920 Phase 4 Simvastatin;Placebo
14 Dopaminergic Enhancement of Learning and Memory in Healthy Adults and Patients With Dementia/Mild Cognitive Impairment Unknown status NCT00306124 Phase 4 Levodopa
15 Pharmacodynamic Effects of Atorvastatin vs. Rosuvastatin on Platelet Reactivity Unknown status NCT01567774 Phase 4 Atorvastatin;Rosuvastatin
16 Memantine for Agitation in Dementia Unknown status NCT00371059 Phase 4 Memantine;Placebo
17 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
18 Insulin Resistance and Mild Cognitive Impairment (IRMCI) Study Unknown status NCT02409238 Phase 4 Metformin
19 Gastrodin Prevents Cognitive Decline Related to Cardiopulmonary Bypass Unknown status NCT00297245 Phase 4 cognitive function
20 Transcranial Magnetic Stimulation for Apathy in Mild Cognitive Impairment:Pilot Study Unknown status NCT02190019 Phase 4
21 Memantine for Post-Operative Pain Control Unknown status NCT01041313 Phase 4 Memantine;Placebo
22 Multi-centre Clinical Trial on Hormone Replacement Treatment in China Unknown status NCT01698164 Phase 4 estradiol plus MPA;Ximingting Tablet;estradiol plus progesterone
23 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
24 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
25 16w Interventional Study on Titration and Dose/Efficacy Assessment of Exelon in Chinese Alzheimer's Disease Patients Completed NCT01948791 Phase 4 ENA713
26 NextStep:Study to Evaluate Safety,Efficacy & Tolerability of Rivastigmine Patch in Mild to Moderate Alzheimer's Patients. Completed NCT02703636 Phase 4 Rivastigmine Patch
27 The Clinical Response of Choline Acetyltransferase and Apolipoprotein Epsilon Gene Polymorphisms to Donepezil in Alzheimer's Disease Completed NCT00381381 Phase 4 Donepezil
28 Tolerability of Rivastigmine Before and After Switching From Oral Formulation to Transdermal Patch in Alzheimer's Dementia Completed NCT01585272 Phase 4 ENA713
29 Trial of Carvedilol in Alzheimer's Disease Completed NCT01354444 Phase 4 Carvedilol;Placebo
30 The Efficacy of Galantamine Treatment on Attention in Patients With Alzheimer's Disease Completed NCT01054976 Phase 4 Galantamine
31 Compliance and Tolerability of Rivastigmine Transdermal Patch 10 cm² in Patients With Probable Alzheimer's Disease. Completed NCT00731224 Phase 4 Rivastigmine transdermal patch
32 Safety and Efficacy of Donepezil HCl 23 mg in Patients With Moderate to Severe Alzheimer's Disease Completed NCT02097056 Phase 4 Donepezil HCL
33 Safety and Efficacy of Donepezil in Mild to Moderate Alzheimer's Disease Completed NCT02787746 Phase 4 Donepezil
34 Memantine and Comprehensive, Individualized Management of Alzheimer's Disease and Caregiver Training Completed NCT00120874 Phase 4 Memantine
35 Escitalopram for the Treatment of Depression in Alzheimer's Disease Completed NCT01841125 Phase 4 escitalopram;Placebo
36 Double Blind Study of Trp01 in Patients With Alzheimer's Disease Completed NCT00202124 Phase 4 Tryptophan
37 Delaying the Progression of Driving Impairment in Individuals With Mild Alzheimer's Disease Completed NCT00476008 Phase 4 Memantine;Placebo
38 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
39 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
40 Neural Correlates In Mild Alzheimer's Disease Completed NCT00477659 Phase 4 donepezil HCl (Aricept)
41 Magnetic Resonance Spectroscopy Study of Memantine in Alzheimer's Disease Completed NCT00551161 Phase 4 memantine
42 Study of the Effects of Current Drug Treatments on Levels of Certain Brain Chemicals in Alzheimer's Disease Completed NCT00104442 Phase 4 Rivastigmine
43 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
44 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
45 Effect of Memantine on Functional Communication in Patients With Alzheimer's Disease Completed NCT00469456 Phase 4 Memantine;placebo
46 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
47 Neptune Krill Oil (NKO™) in Early Stage Alzheimer's Disease (MNEMOSYNE) Completed NCT00867828 Phase 4
48 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
49 EARTH 413: A Study of Aricept in Hispanic Patients With Mild to Moderate Alzheimer's Disease (AD) Completed NCT00230568 Phase 4 Aricept
50 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

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

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Genetic Tests for Early-Onset, Autosomal Dominant Alzheimer Disease

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

# Genetic test Affiliating Genes
1 Alzheimer Disease Familial 30
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Anatomical Context for Early-Onset, Autosomal Dominant Alzheimer Disease

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

42
Brain, Testes, Eye, Breast, Heart, Endothelial, Prostate
Sources

Publications for Early-Onset, Autosomal Dominant Alzheimer Disease

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

(show top 50) (show all 115)
# Title Authors Year
1
PSEN2 (presenilin 2) mutants linked to familial Alzheimer disease impair autophagy by altering Ca2+ homeostasis. ( 30892128 )
2019
2
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease. ( 29988083 )
2018
3
Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1. ( 29466804 )
2018
4
Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration. ( 29070659 )
2017
5
Polygenic risk scores in familial Alzheimer disease. ( 28213371 )
2017
6
Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene. ( 28595629 )
2017
7
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
8
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
9
The Role of Cardiovascular Risk Factors and Stroke in Familial Alzheimer Disease. ( 27533593 )
2016
10
Presymptomatic cortical thinning in familial Alzheimer disease: A longitudinal MRI study. ( 27733562 )
2016
11
Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics. ( 26214276 )
2015
12
Suppressor Mutations for Presenilin 1 Familial Alzheimer Disease Mutants Modulate I^-Secretase Activities. ( 26559975 )
2015
13
Converging approaches to understanding early onset familial Alzheimer disease: A First Nation study. ( 27092264 )
2015
14
Cell signaling abnormalities may drive neurodegeneration in familial Alzheimer disease. ( 23436150 )
2014
15
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease. ( 24582897 )
2014
16
Relative ratio and level of amyloid-I^ 42 surrogate in cerebrospinal fluid of familial Alzheimer disease patients with presenilin 1 mutations. ( 24192669 )
2014
17
Clinical and neuropathological findings in a patient with familial Alzheimer disease showing a mutation in the PSEN1 gene. ( 22882713 )
2013
18
The pattern of atrophy in familial Alzheimer disease: volumetric MRI results from the DIAN study. ( 24049139 )
2013
19
The mechanism of I^-Secretase dysfunction in familial Alzheimer disease. ( 22505025 )
2012
20
Evidence for premature lipid raft aging in APP/PS1 double-transgenic mice, a model of familial Alzheimer disease. ( 22975585 )
2012
21
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of I^-secretase. ( 22461631 )
2012
22
Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers. ( 22829467 )
2012
23
Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutations. ( 22232349 )
2012
24
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
25
[Familial Alzheimer disease]. ( 22755192 )
2011
26
Event-related potential markers of brain changes in preclinical familial Alzheimer disease. ( 21775732 )
2011
27
Linkage analysis of autopsy-confirmed familial Alzheimer disease supports an Alzheimer disease locus in 8q24. ( 21273770 )
2011
28
A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity. ( 20460383 )
2010
29
A DNA methylation study of the amyloid precursor protein gene in several brain regions from patients with familial Alzheimer disease. ( 20919856 )
2010
30
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
31
Effects of the English (H6R) and Tottori (D7N) familial Alzheimer disease mutations on amyloid beta-protein assembly and toxicity. ( 20452980 )
2010
32
Familial Alzheimer disease in Canada. ( 20481260 )
2010
33
Caspase-6 activation in familial alzheimer disease brains carrying amyloid precursor protein or presenilin i or presenilin II mutations. ( 19915487 )
2009
34
Transactive response DNA-binding protein 43 burden in familial Alzheimer disease and Down syndrome. ( 20008652 )
2009
35
Cortical event-related potentials in preclinical familial Alzheimer disease. ( 19917987 )
2009
36
Intramembrane proteolysis of GXGD-type aspartyl proteases is slowed by a familial Alzheimer disease-like mutation. ( 18768471 )
2008
37
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
38
Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1. ( 18580586 )
2008
39
Biochemical markers in persons with preclinical familial Alzheimer disease. ( 18509095 )
2008
40
Mutation negative "early-onset familial Alzheimer disease": consider screening for tau gene mutations. ( 18525295 )
2008
41
Generation of Abeta38 and Abeta42 is independently and differentially affected by familial Alzheimer disease-associated presenilin mutations and gamma-secretase modulation. ( 17962197 )
2008
42
Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1. ( 17431506 )
2007
43
Variability of age at onset in siblings with familial Alzheimer disease. ( 18071037 )
2007
44
The heritability of abstract reasoning in Caribbean Latinos with familial Alzheimer disease. ( 17938569 )
2007
45
The Tottori (D7N) and English (H6R) familial Alzheimer disease mutations accelerate Abeta fibril formation without increasing protofibril formation. ( 17170111 )
2007
46
Familial Alzheimer disease in Latinos: interaction between APOE, stroke, and estrogen replacement. ( 16401842 )
2006
47
MRS shows abnormalities before symptoms in familial Alzheimer disease. ( 16534109 )
2006
48
Apolipoprotein E epsilon4 and age at onset of sporadic and familial Alzheimer disease in Caribbean Hispanics. ( 17101827 )
2006
49
LR11/SorLA expression is reduced in sporadic Alzheimer disease but not in familial Alzheimer disease. ( 16957580 )
2006
50
Formation of tau inclusions in knock-in mice with familial Alzheimer disease (FAD) mutation of presenilin 1 (PS1). ( 16377636 )
2006
Sources

Variations for Early-Onset, Autosomal Dominant Alzheimer Disease

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Expression for Early-Onset, Autosomal Dominant Alzheimer Disease

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

Pathways for Early-Onset, Autosomal Dominant Alzheimer Disease

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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 65
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 66
11.17 APP PSEN1 PSEN2
5
Alzheimers Disease Pathway 65
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 66
10.49 APP PSEN1 PSEN2
8
Notch Pathway 73
10.02 PSEN1 PSEN2
Sources

GO Terms for Early-Onset, Autosomal Dominant Alzheimer Disease

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.87 ABCA7 APP PSEN1 PSEN2 SORL1 TOMM40
2 integral component of plasma membrane GO:0005887 9.8 APP PSEN1 PSEN2 SORL1
3 Golgi membrane GO:0000139 9.56 ABCA7 PSEN1 PSEN2 SORL1
4 Golgi apparatus GO:0005794 9.55 ABCA7 APP PSEN1 PSEN2 SORL1
5 neuromuscular junction GO:0031594 9.48 APP PSEN1
6 rough endoplasmic reticulum GO:0005791 9.46 APP PSEN1
7 integral component of presynaptic membrane GO:0099056 9.43 PSEN1 PSEN2
8 dendritic shaft GO:0043198 9.4 APP PSEN1
9 smooth endoplasmic reticulum GO:0005790 9.37 APP PSEN1
10 ciliary rootlet GO:0035253 8.96 APP PSEN1
11 nuclear envelope lumen GO:0005641 8.62 APP SORL1
12 membrane GO:0016020 10.05 ABCA7 APP PSEN1 PSEN2 SORL1 TOMM40

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

(show all 30)
# 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 9.75 APP PSEN1 SORL1
3 Notch signaling pathway GO:0007219 9.7 APP PSEN1 PSEN2
4 positive regulation of catalytic activity GO:0043085 9.65 PSEN1 PSEN2
5 cholesterol metabolic process GO:0008203 9.64 APP SORL1
6 memory GO:0007613 9.64 ABCA7 PSEN1
7 forebrain development GO:0030900 9.63 APP PSEN1
8 positive regulation of protein binding GO:0032092 9.63 APP PSEN1
9 learning or memory GO:0007611 9.62 APP PSEN1
10 protein processing GO:0016485 9.62 PSEN1 PSEN2
11 synapse organization GO:0050808 9.61 APP PSEN1
12 neuron apoptotic process GO:0051402 9.61 APP PSEN1
13 cellular response to amyloid-beta GO:1904646 9.6 APP PSEN1
14 positive regulation of phosphorylation GO:0042327 9.58 APP PSEN1
15 membrane protein ectodomain proteolysis GO:0006509 9.57 PSEN1 PSEN2
16 regulation of protein binding GO:0043393 9.56 APP PSEN1
17 protein maturation GO:0051604 9.55 PSEN1 SORL1
18 amyloid-beta metabolic process GO:0050435 9.54 PSEN1 PSEN2
19 astrocyte activation GO:0048143 9.51 APP PSEN1
20 negative regulation of amyloid-beta formation GO:1902430 9.49 ABCA7 SORL1
21 neuron projection maintenance GO:1990535 9.48 APP PSEN1
22 Notch receptor processing GO:0007220 9.46 PSEN1 PSEN2
23 amyloid precursor protein catabolic process GO:0042987 9.43 PSEN1 PSEN2
24 modulation of age-related behavioral decline GO:0090647 9.4 APP PSEN1
25 Notch receptor processing, ligand-dependent GO:0035333 9.37 PSEN1 PSEN2
26 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.32 APP PSEN1
27 positive regulation of amyloid fibril formation GO:1905908 9.26 APP PSEN1
28 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.16 APP PSEN1
29 astrocyte activation involved in immune response GO:0002265 8.96 APP PSEN1
30 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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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
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