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MCID: APH002
MIFTS: 57

Aphasia

Categories: Mental diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Aphasia

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MalaCards integrated aliases for Aphasia:

Name: Aphasia 12 53 54 6 42 43 15 71

Classifications:

MalaCards categories:
Anatomical: Mental diseases Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0060046
MeSH 43 D001037
UMLS 71 C0003537
Sources

Summaries for Aphasia

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NINDS : 53 Aphasia is a neurological disorder caused by damage to the portions of the brain that are responsible for language production or processing.  It may occur suddenly or progressively, depending on the type and location of brain tissue involved.  Primary signs of the disorder include difficulty in expressing oneself when speaking, trouble understanding speech, and difficulty with reading and writing. Aphasia is not a disease, but a symptom of brain damage. Although it is primarily seen in individuals who have suffered a stroke, aphasia can also result from a brain tumor, infection, inflammation, head injury, or dementia that affect language-associated regions of the brain. It is estimated that about 1 million people in the United States today suffer from aphasia. The type and severity of language dysfunction depends on the precise location and extent of the damaged brain tissue. Generally, aphasia can be divided into four broad categories: (1) Expressive aphasia (also called Broca's aphasia) involves difficulty in conveying thoughts through speech or writing. The person knows what she/he wants to say, but cannot find the words he needs. (2) Receptive aphasia (Wernicke's aphasia) involves difficulty understanding spoken or written language. The individual hears the voice or sees the print but cannot make sense of the words. (3) Global aphasia results from severe and extensive damage to the language areas of the brain.  People lose almost all language function, both comprehension and expression. They cannot speak or understand speech, nor can they read or write.  (4) Individuals with anomic or amnesia aphasia, the least severe form of aphasia, have difficulty in using the correct names for particular objects, people, places, or events.

MalaCards based summary : Aphasia is related to epilepsy-aphasia spectrum and frontotemporal lobar degeneration with tdp43 inclusions, grn-related, and has symptoms including seizures, fever and dyspnea. An important gene associated with Aphasia is L1CAM (L1 Cell Adhesion Molecule), and among its related pathways/superpathways are Parkinson disease and Neuroscience. The drugs Levodopa and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.

MedlinePlus : 42 Aphasia is a disorder caused by damage to the parts of the brain that control language. It can make it hard for you to read, write, and say what you mean to say. It is most common in adults who have had a stroke. Brain tumors, infections, injuries, and dementia can also cause it. The type of problem you have and how bad it is depends on which part of your brain is damaged and how much damage there is. There are four main types: Expressive aphasia - you know what you want to say, but you have trouble saying or writing what you mean Receptive aphasia - you hear the voice or see the print, but you can't make sense of the words Anomic aphasia - you have trouble using the correct word for objects, places, or events Global aphasia - you can't speak, understand speech, read, or write Some people recover from aphasia without treatment. Most, however, need language therapy as soon as possible. NIH: National Institute of Neurological Disorders and Stroke

Wikipedia : 74 Aphasia is an inability to comprehend or formulate language because of damage to specific brain regions.... more...

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Related Diseases for Aphasia

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Diseases related to Aphasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 480)
# Related Disease Score Top Affiliating Genes
1 epilepsy-aphasia spectrum 34.8 GRIN2A CNKSR2
2 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 34.7 MAPT GRN
3 nominal aphasia 34.5 TARDBP MAPT GRN CHMP2B C9orf72 APOE
4 progressive non-fluent aphasia 34.5 TBK1 PSEN1 MAPT GRN CHMP2B C9orf72
5 gerstmann syndrome 33.7 MAPT APOE
6 semantic dementia 33.6 TARDBP PSEN1 MAPT GRN CHMP2B C9orf72
7 agraphia 32.8 TARDBP PRNP MAPT GRN C9orf72
8 frontotemporal dementia, chromosome 3-linked 32.8 TARDBP MAPT GRN CHMP2B
9 apraxia 32.8 PSEN1 MAPT GRN FOXP2 C9orf72 APOE
10 inclusion body myopathy with paget disease of bone and frontotemporal dementia 32.3 TARDBP CHMP2B C9orf72
11 frontotemporal dementia 32.0 TBK1 TARDBP SNCA PSEN1 PRNP MAPT
12 alexia 31.7 MAPT GRN APOE
13 supranuclear palsy, progressive, 1 31.7 TARDBP SNCA PSEN1 PRNP MAPT LRRK2
14 pick disease of brain 31.7 TARDBP SNCA PSEN1 PRNP OPTN MAPT
15 corticobasal degeneration 31.6 TARDBP MAPT LRRK2
16 dysgraphia 31.6 TARDBP MAPT GRN CHMP2B C9orf72
17 speech disorder 31.5 SRPX2 MAPT GRIN2A FOXP2
18 ideomotor apraxia 31.4 TARDBP MAPT GRN
19 echolalia 31.3 MAPT GRN FOXP2
20 visual agnosia 31.2 PSEN1 MAPT GRN APOE
21 pica disease 31.2 TARDBP MAPT C9orf72
22 anosognosia 31.1 C9orf72 APOE
23 amnestic disorder 31.1 PSEN1 MAPT BDNF APP APOE
24 posterior cortical atrophy 31.0 MAPT APOE
25 tremor 31.0 SNCA MAPT LRRK2
26 lateral sclerosis 30.9 TBK1 TARDBP OPTN CHMP2B C9orf72
27 prosopagnosia 30.9 TARDBP MAPT GRN
28 mutism 30.9 PRNP MAPT GRN GRIN2A GRIN1 CHMP2B
29 dyscalculia 30.9 TARDBP GRN CHMP2B
30 epilepsy 30.9 SRPX2 MAPT GRIN2A GRIN1 BDNF APP
31 creutzfeldt-jakob disease 30.8 SNCA PRNP MAPT BDNF APP APOE
32 associative agnosia 30.8 TARDBP MAPT GRN CHMP2B C9orf72
33 meningoencephalitis 30.8 PSEN1 BDNF APP
34 primary lateral sclerosis, adult, 1 30.7 SNCA MAPT
35 temporal lobe epilepsy 30.7 PRNP GRIN2A GRIN1 BDNF
36 anxiety 30.6 SNCA GRIN2A BDNF APP APOE
37 akinetic mutism 30.5 TARDBP SNCA PRNP MAPT
38 cerebral degeneration 30.4 SNCA MAPT L1CAM APP APOE
39 gait apraxia 30.4 PRNP GRN
40 simultanagnosia 30.4 MAPT APOE
41 lrrk2 parkinson disease 30.4 SNCA LRRK2
42 motor neuron disease 30.4 TBK1 TARDBP SNCA OPTN MAPT GRN
43 multiple system atrophy 1 30.4 SNCA PRNP MAPT LRRK2
44 benign epilepsy with centrotemporal spikes 30.3 SRPX2 GRIN2A GRIN1 FOXP2 BDNF
45 early-onset, autosomal dominant alzheimer disease 30.3 PSEN1 APP
46 basal ganglia calcification 30.3 PSEN1 MAPT APP
47 movement disease 30.3 TARDBP SNCA MAPT LRRK2 GRN C9orf72
48 pseudobulbar palsy 30.3 TARDBP SRPX2 C9orf72
49 ocular dominance 30.2 GRIN2A GRIN1 BDNF
50 prion disease 30.2 TARDBP SNCA PSEN1 PRNP MAPT APP

Graphical network of the top 20 diseases related to Aphasia:



Diseases related to Aphasia
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Symptoms & Phenotypes for Aphasia

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UMLS symptoms related to Aphasia:


seizures, fever, dyspnea, edema, tremor, cachexia, back pain, vertigo, headache, syncope, scanning speech, cyanosis, pain, chronic pain, sciatica, sore throat, icterus, signs and symptoms, signs and symptoms, digestive, other symbolic dysfunction, hot flushes, vertigo/dizziness, sleeplessness, other symptoms involving head and neck, swelling, mass, or lump in head and neck, aprosodia, aphasic, symptoms involving head and neck, other and unspecified speech disturbances, other speech disturbances, central nervous system signs and symptoms

MGI Mouse Phenotypes related to Aphasia:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.43 APOE APP BDNF C9orf72 CNKSR2 GRIN1
2 cellular MP:0005384 10.32 APOE APP BDNF C9orf72 GRIN1 GRN
3 homeostasis/metabolism MP:0005376 10.3 APOE APP BDNF C9orf72 GRIN1 GRN
4 growth/size/body region MP:0005378 10.27 APOE APP BDNF C9orf72 GRIN1 GRN
5 mortality/aging MP:0010768 10.27 APOE APP BDNF C9orf72 CHMP2B GRIN1
6 hematopoietic system MP:0005397 10.22 APOE APP C9orf72 GRIN1 GRN LRRK2
7 integument MP:0010771 10.22 APOE APP BDNF C9orf72 GRIN2A GRN
8 nervous system MP:0003631 10.22 APOE APP BDNF C9orf72 CHMP2B GRIN1
9 immune system MP:0005387 10.21 APOE APP C9orf72 GRN LRRK2 MAPT
10 no phenotypic analysis MP:0003012 10.1 APOE APP BDNF C9orf72 GRIN1 GRN
11 reproductive system MP:0005389 9.81 APOE APP BDNF GRIN1 GRN L1CAM
12 taste/olfaction MP:0005394 9.35 APOE BDNF GRIN1 MAPT SNCA
13 vision/eye MP:0005391 9.28 APOE BDNF CHMP2B GRIN1 GRN L1CAM
Sources

Drugs & Therapeutics for Aphasia

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Drugs for Aphasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 160)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved Phase 4 59-92-7 6047
2
Memantine Approved, Investigational Phase 4 19982-08-2 4054
3
Carbidopa Approved Phase 4 28860-95-9 34359
4
Citalopram Approved Phase 4 59729-33-8 2771
5
tannic acid Approved Phase 4 1401-55-4
6
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
7
Topiramate Approved Phase 4 97240-79-4 5284627
8
Atorvastatin Approved Phase 4 134523-00-5 60823
9
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
10
Piracetam Approved, Investigational Phase 4 7491-74-9
11
Corticosterone Experimental Phase 4 50-22-6 5753
12 Anticonvulsants Phase 4
13 Cholinergic Agents Phase 4
14 Excitatory Amino Acid Antagonists Phase 4
15 Carbidopa, levodopa drug combination Phase 4
16 Antidepressive Agents Phase 4
17 Parasympatholytics Phase 4
18 Psychotropic Drugs Phase 4
19 Muscarinic Antagonists Phase 4
20 Serotonin Uptake Inhibitors Phase 4
21 Cholinergic Antagonists Phase 4
22 Hypoglycemic Agents Phase 4
23 Adjuvants, Immunologic Phase 4
24 Botulinum Toxins Phase 4
25 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
26 Hypolipidemic Agents Phase 4
27 Lipid Regulating Agents Phase 4
28 Anticholesteremic Agents Phase 4
29 Antimetabolites Phase 4
30 abobotulinumtoxinA Phase 4
31 Botulinum Toxins, Type A Phase 4
32 Fluorodeoxyglucose F18 Phase 4
33 Anti-Inflammatory Agents Phase 4
34 Pharmaceutical Solutions Phase 4
35 Neuroprotective Agents Phase 4
36 Protective Agents Phase 4
37
Miglustat Approved Phase 3 72599-27-0 51634
38
Donepezil Approved Phase 3 120014-06-4 3152
39
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
40
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
41
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
42
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
43
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
44
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
45 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
46
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
47 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2, Phase 3
48 Anti-HIV Agents Phase 3
49 Cardiac Glycosides Phase 3
50 Anti-Retroviral Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 441)
# Name Status NCT ID Phase Drugs
1 A 24-Week Pilot, Double-Blind, Randomized, Parallel, Placebo-Controlled Study of Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:Correlation With Cognitive Evoked Potentials During Recovery. Unknown status NCT00196703 Phase 4 memantine
2 Dopaminergic Enhancement of Learning and Memory (LL_001, Project on Aphasia) Completed NCT00102869 Phase 4 levodopa
3 Treatment With Donepezil of Chronic Aphasia and Sensorimotor Deficits Associated to Cerebrovascular Accidents: a Double-Blind,Placebo-Controlled, Randomized Parallel Trial. Completed NCT00196690 Phase 4 Donepezil
4 A 24-Week Pilot, Double-Blind, Randomized, Parallel, Placebo-Controlled Study of Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:Correlation With Cognitive Evoked Potentials During Recovery. Completed NCT00640198 Phase 4 memantine;memantine;placebo
5 A Prospective, Randomized, Multi-Center, Double-Blind, 26 Week, Placebo-Controlled Trial of Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
6 Effect of Serotonin and Levodopa Functional Recovery in Patients With Cerebral Infarction Completed NCT02386475 Phase 4 citalopram;sinemet plus
7 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
8 Effects of Early Atorvastatin Treatment During the Acute Phase of Stroke on Immunoinflammatory Markers and Outcome in Patients With Acute Ischemic Stroke Classified as LAAS According TOAST Classification Completed NCT02225834 Phase 4 Atorvastatin
9 A Randomized, Pilot Study to Evaluate the Tolerability of OnabotulinumtoxinA Plus Topiramate vs. OnabotulinumtoxinA Plus Placebo and Long Term Effect of Treatment on Cognitive Efficiency and Continuation of Care Completed NCT01700387 Phase 4 onabotulinumtoxinA;Topiramate;Placebo
10 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
11 Brain Amyloid Imaging With Pittsburgh Compound B in Normal Aging, Mild Cognitive Impairment, and Dementia Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
12 Randomized, Double Blind, Placebo Controlled, Two Parallel Group Study to Evaluate the Efficacy and Safety of Piracetam, 12 g Intravenous (IV) Infusion Within 7 Hour (h) Post Stroke Onset, Followed by 12 g/d for 4 Weeks (IV Ampoules, Oral Solution) and 4.8 g/d for 8 Weeks (Tablets) in Adult Subjects With an Acute Ischemic Middle Cerebral Artery Stroke Terminated NCT01883011 Phase 4 Piracetam
13 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
14 COGNITIVE - Comparison of Cognitive Function After Sevoflurane or Propofol Anesthesia for Open-heart Operations Withdrawn NCT00541918 Phase 4 Diprivan (propofol, Astra Zeneca);Sevorane (sevoflurane, Abbott)
15 Improvement of Aphasia After Stroke by Intensive Training and Transcranial Direct Current Stimulation Unknown status NCT00822068 Phase 2, Phase 3
16 Effects of Repetitive Magnetic Transcranial Stimulation of Low Frequency on Speech Production in Patients With Non-fluent Aphasia Post-ischemic Stroke Unknown status NCT02241213 Phase 3
17 Augmenting Language Therapy for Aphasia: A Randomized Double-Blind Placebo-Controlled Trial of Levodopa in Combination With Speech-Language Therapy Completed NCT01429077 Phase 2, Phase 3 levodopa/carbidopa;Placebo comparator
18 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
19 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
20 A Double-Blind, Placebo-Controlled, Randomized, Parallel Group, 12-Month Safety and Efficacy Trial of TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3 TRx0237;Placebo
21 Effects of Combining Donepezil, Intensive Language Rehabilitation and Transcranial Direct Current Stimulation on Language Recovery and Brain Reorganization in Chronic Post-stroke Aphasia Recruiting NCT04134416 Phase 3 Donepezil
22 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Recruiting NCT03682185 Phase 3
23 Effects of Intraoperative Local Steroid Utilization in a Single-Level Minimally Invasive Transforaminal Lumbar Interbody Fusion Active, not recruiting NCT03308084 Phase 3 Methylprednisolone;Dexamethasone
24 A Phase 3, Multicenter, Randomized, Double Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of AL001 in Individuals at Risk for or With Frontotemporal Dementia Due to Heterozygous Mutations in the Progranulin Gene Not yet recruiting NCT04374136 Phase 3 AL001;Placebo
25 Behavioral and Neural Correlates of Melodic-Intonation-Therapy (MIT) and Speech-Repetition-Therapy (SRT) for Patients With Non-fluent Aphasia Suspended NCT00903266 Phase 3
26 Multicenter Study of Non-invasive Repetitive Paraorbital Alternating Current Stimulation of the Brain: Therapy for Aphasy Terminated NCT01277575 Phase 3
27 An Open-Label, Extension Study of the Effects of LMTM in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Terminated NCT02245568 Phase 3 LMTM
28 Chronic Aphasia - Improved by Intensive Training and Electrical Brain Stimulation (CATS) Unknown status NCT01924702 Phase 2
29 Chronic Aphasia - Improved by Intensive Training and Electrical Brain Unknown status NCT01221779 Phase 2
30 A Randomized, Double-Blind, Placebo-Controlled, Dose-Escalating, Phase 2a Safety, Tolerability, and Pharmacodynamic Study of Two Doses of an Histone Deacetylase Inhibitor (FRM-0334) in Subjects With Prodromal to Moderate Frontotemporal Dementia With Granulin Mutation Unknown status NCT02149160 Phase 2 FRM-0334;Placebo
31 Effectiveness of Rehabilitation (Phasic Alerting and Visual Spatial Scanning Training) on the Recovery of Patients Post Right Stroke With Unilateral Spatial Neglect: Using Functional Imaging PET and Standardized Neurobehavioral and Functional Tests Unknown status NCT00305513 Phase 2
32 Transcranial Direct Current Stimulation and Aphasia Treatment Outcomes Completed NCT01686373 Phase 2
33 Treating Intention In Aphasia: Neuroplastic Substrates Completed NCT00567242 Phase 1, Phase 2
34 Effect Of Verb Network Strengthening Treatment on Lexical Retrieval in Aphasia Completed NCT01300624 Phase 2
35 Psychosocial Wellbeing Following Stroke: Developing and Testing a Psychosocial Nursing Intervention for Primary Care Completed NCT01912014 Phase 1, Phase 2
36 A Study Evaluating the Imaging Characteristics of Florbetapir 18F (18F-AV-45) in Patients With Frontotemporal Dementia Compared to Patients With Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2 florbetapir 18F;18F-FDG
37 Transcranial Direct Current Stimulation and Melodic Intonation Therapy Combined With Dextroamphetamine in Chronic Stroke Patients With Non-fluent Aphasia; Safety and Efficacy Phase Completed NCT02514044 Phase 2 Dexedrine;Placebo
38 An Open Pilot Study to Evaluate the Safety and Efficacy of Galantamine in the Treatment of Pick's Disease/Frontotemporal Dementia /Pick Complex Completed NCT00416169 Phase 2 galantamine hydrobromide
39 A Feasibility Trial to Evaluate the MindFrame System in the Recanalization of Occluded Vessels in Patients Experiencing an Ischemic Stroke Completed NCT00810095 Phase 2
40 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
41 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
42 Open-label, Exploratory Study of the Efficacy of Repetitive Transcranial Magnetic Stimulation on Naming and Verbal Fluency in Patients With Alzheimer's Disease With Functional Imaging Correlates Completed NCT00814697 Phase 2
43 Double-blind, Parallel Group, Placebo-controlled Trial of the Efficacy and Tolerability of Memantine (20 mg) in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
44 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
45 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
46 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
47 Intranasal Insulin and Post-stroke Cognition: A Pilot Study Completed NCT02810392 Phase 2 Intranasal Insulin;Intranasal saline
48 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
49 Speech Entrainment for Aphasia Recovery Recruiting NCT04364854 Phase 2
50 Targeted Transcranial Electrotherapy for Stroke Rehabilitation - Exploratory Trial on Aphasia Recruiting NCT02540109 Phase 2

Search NIH Clinical Center for Aphasia

Cochrane evidence based reviews: aphasia

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Genetic Tests for Aphasia

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Anatomical Context for Aphasia

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MalaCards organs/tissues related to Aphasia:

40
Brain, Testes, Cortex, Temporal Lobe, Eye, Thalamus, Liver
Sources

Publications for Aphasia

About this section

Articles related to Aphasia:

(show top 50) (show all 12744)
# Title Authors PMID Year
1
Computerised speech and language therapy can help people with aphasia find words following a stroke. 61 42
32213484 2020
2
Development of disease-modifying drugs for frontotemporal dementia spectrum disorders. 42
32203398 2020
3
Against Medical Advice. 42
32160660 2020
4
Phenomenology and anatomy of abnormal behaviours in primary progressive aphasia. 54 61
20400120 2010
5
Expanding the phenotypic spectrum of L1CAM-associated disease. 54 61
16650080 2006
6
First case of L1CAM gene mutation identified in MASA syndrome in Asia. 61 54
15904436 2005
7
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). 54 61
9643285 1998
8
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. 61 54
9744477 1998
9
L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling. 61 54
9440802 1997
10
Research hotspots and effectiveness of repetitive transcranial magnetic stimulation in stroke rehabilitation. 61
32394967 2020
11
Spectrum of Frontotemporal Lobar Degeneration on 18F-FDG PET/CT Scan. 61
32453084 2020
12
Cortical deafness of following bilateral temporal lobe stroke. 61
32386850 2020
13
Natural Y-shaped radial artery graft bypass for a complex middle cerebral artery aneurysm: A case report. 61
32389556 2020
14
Endovascular Treatment of Spontaneous Internal Carotid Artery Dissection with Proximal Embolic Protection Device. 61
31904520 2020
15
Paraneoplastic tumefactive demyelination in a 47-year-old man with underlying seminoma. 61
32217464 2020
16
Classification of general and personal semantic details in the Autobiographical Interview. 61
32445644 2020
17
Expanding the Phenotype of Frontotemporal Lobar Degeneration With FUS-Positive Pathology (FTLD-FUS). 61
32483606 2020
18
Binding of [18F]AV1451 in post mortem brain slices of semantic variant primary progressive aphasia patients. 61
31848674 2020
19
Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy. 61
32289570 2020
20
A domain-general perspective on the role of the basal ganglia in language and music: Benefits of music therapy for the treatment of aphasia. 61
32442810 2020
21
BE-FAST: A Sensitive Screening Tool to Identify In-Hospital Acute Ischemic Stroke. 61
32312632 2020
22
Speech and language therapy for primary progressive aphasia: Referral patterns and barriers to service provision across the UK. 61
30180763 2020
23
Transient aphasia induced by intermittent theta burst stimulation. 61
32380444 2020
24
Preserved performance monitoring and error detection in left hemisphere stroke. 61
32570207 2020
25
Clinical risk factors for post-stroke urinary incontinence during rehabilitation. 61
32568943 2020
26
Predicting post-stroke aphasia from brain imaging. 61
32561868 2020
27
Distribution of TDP-43 Pathology in Hippocampal Synaptic Relays Suggests Transsynaptic Propagation in Frontotemporal Lobar Degeneration. 61
32388566 2020
28
Altered levels of CSF proteins in patients with FTD, presymptomatic mutation carriers and non-carriers. 61
32576262 2020
29
"Everything hurts!" Distress in semantic variant primary progressive aphasia. 61
32291073 2020
30
Treatment for spoken and written word retrieval in the semantic variant of primary progressive aphasia. 61
30198389 2020
31
Mechanical Thrombectomy Using a Stent Retriever with an Intermediate Catheter for Partially Occluded Middle Cerebral Artery Fenestration. 61
32224267 2020
32
Etiology of Papilledema in Patients in the Eye Clinic Setting. 61
32484553 2020
33
[Classification and Diagnosis of Primary Progressive Aphasia]. 61
32507759 2020
34
Impaired phonemic discrimination in logopenic variant primary progressive aphasia. 61
32558373 2020
35
[Review on the improvements in communication skills among aphasic patients through the use of portable technology.] 61
32518221 2020
36
Automation of the Northwestern Narrative Language Analysis System. 61
32464070 2020
37
Dysarthria and stroke. The effectiveness of speech rehabilitation. A systematic review and meta-analysis of the studies. 61
32519528 2020
38
White matter networks dissociate semantic control from semantic knowledge representations: Evidence from voxel-based lesion-symptom mapping. 61
32529964 2020
39
Penumbral Salvage by Delayed Clip Reposition 19 Hours After Cerebral Aneurysm Clipping-Induced Ischemia Results in Neurologic Restitution-Correlation with Indocyanine Green Videoangiography and FLOW 800 Measurements. 61
32142943 2020
40
Occurrence of multidrug-resistant tuberculous meningitis associated with injury during spinal surgery: A case report. 61
32554033 2020
41
Language supplementary motor area syndrome correlated with dynamic changes in perioperative task-based functional MRI activations: case report. 61
32502992 2020
42
The use of amantadine in patients with unresponsive wakefulness syndrome after severe cerebral hemorrhage. 61
32552090 2020
43
A multimodal diagnostic approach for lateralised rhythmic delta activity in the ictal-interictal continuum. 61
32554363 2020
44
Ischemic stroke associated with novel coronavirus 2019: a report of three cases. 61
32543260 2020
45
PEGylated versus non-PEGylated drugs: A cross-sectional analysis of adverse events in the FDA Adverse Event Reporting System (FAERS) Database
. 61
32324132 2020
46
Typicality-based semantic treatment for anomia results in multiple levels of generalisation. 61
30027828 2020
47
Retrieval Practice in Memory- and Language-Impaired Populations: A Systematic Review. 61
32514557 2020
48
Microsurgical Resection of a Left Supramarginal Gyrus AVM Causing Radionecrosis. 61
32105879 2020
49
Stanford type a aortic dissection with cerebral infarction: a rare case report. 61
32576285 2020
50
A case of disseminated microscopic demyelination with multifocal dystrophic calcification. 61
32128889 2020
Sources

Variations for Aphasia

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ClinVar genetic disease variations for Aphasia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(12;14)(q15;q13)matTranslocation Uncertain significance 267936
Sources

Expression for Aphasia

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Search GEO for disease gene expression data for Aphasia.
Sources

Pathways for Aphasia

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Pathways related to Aphasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Parkinson disease 36
Show member pathways
 12.77 SNCA PSEN1 MAPT LRRK2 GRIN2A GRIN1
2
Neuroscience 4
11.94 TARDBP SNCA PSEN1 PRNP OPTN MAPT
3
Alzheimers Disease 1
11.67 SNCA PSEN1 MAPT GRIN2A GRIN1 APP
4
p75(NTR)-mediated signaling 1
Show member pathways
 11.36 PSEN1 BDNF APP
5
Copper homeostasis 1
11.23 PRNP MAPT APP
6
Alzheimers Disease Pathway 63
11.21 PSEN1 MAPT APP APOE
Sources

GO Terms for Aphasia

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Cellular components related to Aphasia according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.45 TBK1 TARDBP SRPX2 SNCA PSEN1 PRNP
2 plasma membrane GO:0005886 10.43 SNCA PSEN1 PRNP MAPT LRRK2 L1CAM
3 extracellular space GO:0005615 10.24 SRPX2 SNCA LRRK2 GRN C9orf72 BDNF
4 Golgi apparatus GO:0005794 10.19 SNCA PSEN1 PRNP OPTN LRRK2 GRN
5 cell projection GO:0042995 10.15 PSEN1 MAPT LRRK2 L1CAM GRIN2A C9orf72
6 synapse GO:0045202 10.12 SRPX2 SNCA PSEN1 LRRK2 GRIN2A GRIN1
7 cell junction GO:0030054 10.11 SRPX2 SNCA PSEN1 LRRK2 GRIN2A GRIN1
8 cytoplasmic vesicle GO:0031410 10.11 PSEN1 OPTN LRRK2 GRIN2A C9orf72 BDNF
9 endosome GO:0005768 10.07 PSEN1 OPTN LRRK2 GRN CHMP2B C9orf72
10 cell surface GO:0009986 10.05 SRPX2 PSEN1 PRNP L1CAM GRIN2A GRIN1
11 lysosome GO:0005764 10.01 SNCA LRRK2 GRN CHMP2B C9orf72
12 cell GO:0005623 10 SNCA PSEN1 PRNP MAPT LRRK2 GRN
13 postsynaptic density GO:0014069 9.98 PRNP GRIN2A GRIN1 CNKSR2 CHMP2B
14 glutamatergic synapse GO:0098978 9.97 LRRK2 GRIN2A GRIN1 CNKSR2 CHMP2B APOE
15 neuron projection GO:0043005 9.97 PSEN1 MAPT LRRK2 GRIN2A GRIN1 CNKSR2
16 membrane raft GO:0045121 9.96 PSEN1 PRNP MAPT LRRK2 APP
17 neuronal cell body GO:0043025 9.95 SNCA PSEN1 MAPT LRRK2 L1CAM CNKSR2
18 axon GO:0030424 9.92 SNCA PSEN1 MAPT LRRK2 L1CAM C9orf72
19 dendritic spine GO:0043197 9.9 MAPT GRIN2A GRIN1 APP
20 dendrite GO:0030425 9.81 PSEN1 PRNP MAPT LRRK2 L1CAM GRIN1
21 rough endoplasmic reticulum GO:0005791 9.8 SNCA PSEN1 APP
22 terminal bouton GO:0043195 9.78 SNCA PRNP LRRK2 GRIN1
23 synaptic membrane GO:0097060 9.73 SRPX2 PSEN1 GRIN2A GRIN1
24 inclusion body GO:0016234 9.71 SNCA PRNP LRRK2
25 ciliary rootlet GO:0035253 9.63 PSEN1 APP
26 NMDA selective glutamate receptor complex GO:0017146 9.63 GRIN2A GRIN1
27 main axon GO:0044304 9.63 MAPT C9orf72 APP
28 growth cone GO:0030426 9.5 SNCA PSEN1 MAPT LRRK2 L1CAM C9orf72
29 synaptic vesicle GO:0008021 9.17 SNCA PSEN1 LRRK2 GRIN2A GRIN1 BDNF

Biological processes related to Aphasia according to GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 10.05 TBK1 PSEN1 LRRK2 APP APOE
2 cellular protein metabolic process GO:0044267 10 SNCA PSEN1 APP APOE
3 negative regulation of gene expression GO:0010629 10 TBK1 TARDBP PSEN1 MAPT APP APOE
4 autophagy GO:0006914 9.96 PSEN1 OPTN LRRK2 CHMP2B C9orf72
5 neuron projection development GO:0031175 9.94 MAPT L1CAM APP APOE
6 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.9 TBK1 SNCA BDNF APP
7 calcium-mediated signaling GO:0019722 9.89 LRRK2 GRIN2A GRIN1
8 cerebral cortex development GO:0021987 9.88 PSEN1 GRIN1 FOXP2
9 regulation of autophagy GO:0010506 9.88 MAPT LRRK2 C9orf72
10 response to oxidative stress GO:0006979 9.88 PSEN1 PRNP LRRK2 APP APOE
11 positive regulation of protein binding GO:0032092 9.87 PSEN1 LRRK2 APP
12 forebrain development GO:0030900 9.87 PSEN1 FOXP2 APP
13 learning GO:0007612 9.86 GRIN2A GRIN1 APP
14 excitatory postsynaptic potential GO:0060079 9.85 SNCA LRRK2 GRIN2A GRIN1
15 memory GO:0007613 9.85 PSEN1 MAPT GRIN2A GRIN1 BDNF
16 negative regulation of neuron apoptotic process GO:0043524 9.85 SNCA PSEN1 GRN GRIN1 BDNF APOE
17 adult locomotory behavior GO:0008344 9.84 SNCA GRIN1 APP
18 visual learning GO:0008542 9.83 GRIN2A GRIN1 APP
19 positive regulation of neuron death GO:1901216 9.83 SNCA PRNP MAPT
20 long-term memory GO:0007616 9.81 PRNP GRIN1 APOE
21 regulation of NMDA receptor activity GO:2000310 9.8 GRIN2A GRIN1 APP
22 microglial cell activation GO:0001774 9.8 SNCA MAPT APP
23 cellular response to copper ion GO:0071280 9.79 SNCA PRNP APP
24 ionotropic glutamate receptor signaling pathway GO:0035235 9.78 GRIN2A GRIN1 APP
25 regulation of long-term neuronal synaptic plasticity GO:0048169 9.77 SNCA GRIN1 APP
26 regulation of neuronal synaptic plasticity GO:0048168 9.76 SNCA GRIN1 APOE
27 regulation of neuron death GO:1901214 9.75 TBK1 SNCA LRRK2
28 astrocyte activation GO:0048143 9.74 PSEN1 MAPT APP
29 axon development GO:0061564 9.73 MAPT L1CAM
30 dopamine metabolic process GO:0042417 9.73 SNCA GRIN2A
31 negative regulation of protein processing GO:0010955 9.73 PRNP LRRK2
32 negative regulation of amyloid-beta formation GO:1902430 9.72 PRNP APOE
33 cellular copper ion homeostasis GO:0006878 9.72 PRNP APP
34 positive regulation of receptor recycling GO:0001921 9.72 SNCA PSEN1
35 supramolecular fiber organization GO:0097435 9.72 SNCA MAPT
36 locomotory exploration behavior GO:0035641 9.72 LRRK2 APOE
37 synapse organization GO:0050808 9.72 SNCA PSEN1 MAPT L1CAM APP
38 suckling behavior GO:0001967 9.71 GRIN1 APP
39 amyloid fibril formation GO:1990000 9.71 MAPT APP
40 amyloid precursor protein metabolic process GO:0042982 9.71 PSEN1 APOE
41 negative regulation of long-term synaptic potentiation GO:1900272 9.71 PRNP APP APOE
42 excitatory chemical synaptic transmission GO:0098976 9.69 GRIN2A GRIN1
43 regulation of mitochondrial fission GO:0090140 9.69 MAPT LRRK2
44 cellular response to manganese ion GO:0071287 9.69 LRRK2 APP
45 neuron projection maintenance GO:1990535 9.69 PSEN1 PRNP APP
46 intracellular distribution of mitochondria GO:0048312 9.68 MAPT LRRK2
47 regulation of locomotion GO:0040012 9.68 SNCA LRRK2
48 calcium ion transmembrane import into cytosol GO:0097553 9.68 GRIN2A GRIN1
49 locomotion GO:0040011 9.67 PSEN1 GRIN2A
50 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.67 PSEN1 APP

Molecular functions related to Aphasia according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.96 TBK1 TARDBP SRPX2 SNCA PSEN1 PRNP
2 microtubule binding GO:0008017 9.8 SNCA PRNP MAPT LRRK2
3 signaling receptor binding GO:0005102 9.77 SRPX2 GRIN1 BDNF APP APOE
4 chaperone binding GO:0051087 9.7 PRNP MAPT GRN
5 calcium channel activity GO:0005262 9.69 PSEN1 GRIN2A GRIN1
6 tubulin binding GO:0015631 9.58 PRNP MAPT LRRK2
7 growth factor receptor binding GO:0070851 9.48 PSEN1 APP
8 lipoprotein particle binding GO:0071813 9.46 MAPT APOE
9 amyloid-beta binding GO:0001540 9.46 PRNP GRIN2A GRIN1 APOE
10 NMDA glutamate receptor activity GO:0004972 9.43 GRIN2A GRIN1
11 identical protein binding GO:0042802 9.4 TBK1 TARDBP SRPX2 SNCA PRNP OPTN
12 cuprous ion binding GO:1903136 9.32 SNCA PRNP
13 glutamate-gated calcium ion channel activity GO:0022849 9.26 GRIN2A GRIN1
Sources

Sources for Aphasia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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