MCID: MTR014
MIFTS: 64

Motor Neuron Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Motor Neuron Disease

MalaCards integrated aliases for Motor Neuron Disease:

Name: Motor Neuron Disease 12 74 58 29 54 6 15 37 17 71 32
Anterior Horn Cell Disease 58
Motor Neuron Diseases 53

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:231
ICD9CM 34 335.2
MeSH 43 D016472
SNOMED-CT 67 37340000
ICD10 32 G12.2 G12.20
MESH via Orphanet 44 D016472
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 72 C0085084 C0154681
Orphanet 58 ORPHA98503
UMLS 71 C0085084

Summaries for Motor Neuron Disease

NINDS : 53 The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy cells that control essential muscle activity such as speaking, walking, breathing, and swallowing.  Normally, messages from nerve cells in the brain (called upper motor neurons) are transmitted to nerve cells in the brain stem and spinal cord (called lower motor neurons) and from them to particular muscles.  When there are disruptions in these signals, the result can be gradual muscle weakening, wasting away, and uncontrollable twitching (called fasciculations).  Eventually, the ability to control voluntary movement can be lost.  MNDs may be inherited or acquired, and they occur in all age groups.  MNDs occur more commonly in men than in women, and symptoms may appear after age 40.  In children, particularly in inherited or familial forms of the disease, symptoms can be present at birth or appear before the child learns to walk. The causes of sporadic (noninherited) MNDs are not known, but environmental, toxic, viral, or genetic factors may be implicated.  Common MNDs include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy, primary lateral sclerosis, and progressive muscular atrophy. Other MNDs include the many inherited forms of spinal muscular atrophy and post-polio syndrome, a condition that can strike polio survivors decades after their recovery from poliomyelitis.

MalaCards based summary : Motor Neuron Disease, also known as anterior horn cell disease, is related to amyotrophic lateral sclerosis 1 and genetic motor neuron disease, and has symptoms including ataxia, myoclonus and hemiplegia. An important gene associated with Motor Neuron Disease is SOD1 (Superoxide Dismutase 1), and among its related pathways/superpathways are Neuroscience and Amyotrophic lateral sclerosis (ALS). The drugs Riluzole and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 A neurodegenerative disease that is located in the motor neurones.

Wikipedia : 74 Motor neuron diseases (MNDs) are a group of neurodegenerative disorders that selectively affect motor... more...

Related Diseases for Motor Neuron Disease

Diseases in the Motor Neuron Disease family:

Acquired Motor Neuron Disease

Diseases related to Motor Neuron Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 516)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 1 35.0 VCP TBK1 TARDBP SQSTM1 SOD2 SOD1
2 genetic motor neuron disease 34.9 SETX DYNC1H1 DCTN1
3 lateral sclerosis 34.7 VCP TBK1 TARDBP SQSTM1 SOD1 SETX
4 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 34.6 VCP TBK1 TARDBP SQSTM1 SOD1 SETX
5 frontotemporal dementia 34.4 VCP TBK1 TARDBP SQSTM1 SOD1 NEFH
6 primary lateral sclerosis, adult, 1 34.1 SOD1 MAPT ALS2
7 spinal and bulbar muscular atrophy, x-linked 1 34.0 TARDBP SOD1 SMN2 DCTN1 AR
8 progressive muscular atrophy 33.9 VCP TARDBP SOD1 SMN2 SMN1 CHCHD10
9 spinal muscular atrophy 33.7 TARDBP SQSTM1 SOD1 SMN2 SMN1 SETX
10 progressive bulbar palsy 33.5 TARDBP SOD1 ALS2
11 supranuclear palsy, progressive, 1 33.4 VCP TARDBP SOD1 MAPT GRN DCTN1
12 pick disease of brain 33.3 VCP TARDBP SQSTM1 SOD1 OPTN NEFH
13 anterior horn cell disease 33.2 SMN2 SMN1
14 distal hereditary motor neuropathies 33.1 SETX DCTN1
15 muscular atrophy 32.6 TARDBP SMN2 SMN1 SETX DYNC1H1 DCTN1
16 dementia 32.3 VCP TBK1 TARDBP SQSTM1 SOD1 MAPT
17 neuromuscular disease 32.1 SOD1 SMN2 SMN1 NEFH DYNC1H1 DCTN1
18 amyotrophic lateral sclerosis 4, juvenile 32.0 TARDBP SOD1 SETX OPTN ALS2
19 spinal muscular atrophy, distal, autosomal recessive, 1 31.9 SMN2 SMN1 SETX
20 aphasia 31.9 VCP TBK1 TARDBP OPTN MAPT GRN
21 peripheral nervous system disease 31.7 SOD1 SMN2 SMN1 NEFH CNTF
22 apraxia 31.6 SETX MAPT GRN
23 charcot-marie-tooth disease 31.5 VCP SOD1 SMN2 SMN1 SETX NEFH
24 tooth disease 31.5 VCP NEFH DYNC1H1 BSCL2
25 semantic dementia 31.5 TARDBP MAPT GRN
26 aceruloplasminemia 31.4 SOD2 SOD1 SETX MAPT
27 mutism 31.4 TARDBP MAPT GRN
28 progressive non-fluent aphasia 31.3 VCP TBK1 MAPT GRN
29 nominal aphasia 31.3 VCP TARDBP MAPT GRN
30 parkinson disease, late-onset 31.3 VCP SQSTM1 SOD2 SOD1 MAPT DYNC1H1
31 autosomal dominant cerebellar ataxia 31.2 VCP TARDBP SOD1 SETX MAPT AR
32 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 31.2 TARDBP SOD1 SETX OPTN ALS2
33 amyotrophic lateral sclerosis 8 31.2 TARDBP SOD1 SETX OPTN ALS2
34 alzheimer disease 31.1 VCP TARDBP SQSTM1 SOD2 SOD1 NEFH
35 huntington disease 31.1 SQSTM1 SOD2 SOD1 MAPT CNTF
36 spinocerebellar ataxia 2 31.1 TARDBP SOD1 SETX ALS2
37 prion disease 31.1 TARDBP SOD2 SOD1 MAPT
38 perry syndrome 31.1 VCP TARDBP MAPT GRN DYNC1H1 DCTN1
39 proximal spinal muscular atrophy 31.1 SMN2 SMN1 SETX
40 inclusion body myositis 31.1 VCP TARDBP SQSTM1 OPTN MAPT
41 agraphia 31.1 TARDBP MAPT GRN
42 dysgraphia 31.0 TARDBP MAPT GRN
43 prosopagnosia 31.0 TARDBP MAPT GRN
44 speech disorder 31.0 TARDBP MAPT GRN
45 akinetic mutism 31.0 TARDBP MAPT
46 dystonia 30.9 SQSTM1 SETX GRN DCTN1 ALS2
47 alexia 30.9 MAPT GRN
48 paget's disease of bone 30.9 VCP SQSTM1 OPTN
49 amyotrophic lateral sclerosis 12 30.9 TARDBP SETX OPTN ALS2
50 motor peripheral neuropathy 30.9 SETX DYNC1H1 DCTN1 BSCL2

Comorbidity relations with Motor Neuron Disease via Phenotypic Disease Network (PDN):


Intermittent Claudication

Graphical network of the top 20 diseases related to Motor Neuron Disease:



Diseases related to Motor Neuron Disease

Symptoms & Phenotypes for Motor Neuron Disease

UMLS symptoms related to Motor Neuron Disease:


ataxia, myoclonus, hemiplegia, muscular fasciculation

MGI Mouse Phenotypes related to Motor Neuron Disease:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.44 ALS2 AR BSCL2 CHCHD10 CNTF DCTN1
2 cellular MP:0005384 10.4 AR BSCL2 CHCHD10 CNTF DCTN1 GRN
3 homeostasis/metabolism MP:0005376 10.38 ALS2 AR BSCL2 CHCHD10 CNTF DCTN1
4 immune system MP:0005387 10.36 ALS2 AR BSCL2 CHCHD10 CNTF DCTN1
5 hematopoietic system MP:0005397 10.34 AR BSCL2 CHCHD10 CNTF DCTN1 GRN
6 growth/size/body region MP:0005378 10.32 ALS2 AR BSCL2 CHCHD10 DYNC1H1 GRN
7 mortality/aging MP:0010768 10.27 ALS2 AR BSCL2 CHCHD10 DCTN1 DYNC1H1
8 integument MP:0010771 10.13 AR BSCL2 GRN MAPT SMN2 SOD1
9 nervous system MP:0003631 10.13 ALS2 AR CHCHD10 CNTF DCTN1 DYNC1H1
10 muscle MP:0005369 10.1 ALS2 AR CHCHD10 CNTF DCTN1 DYNC1H1
11 liver/biliary system MP:0005370 9.95 AR BSCL2 GRN SOD1 SOD2 SQSTM1
12 no phenotypic analysis MP:0003012 9.76 BSCL2 CNTF GRN MAPT OPTN SMN2
13 reproductive system MP:0005389 9.61 AR BSCL2 CNTF DYNC1H1 GRN SETX
14 skeleton MP:0005390 9.28 AR BSCL2 CHCHD10 DCTN1 SMN2 SOD1

Drugs & Therapeutics for Motor Neuron Disease

Drugs for Motor Neuron Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 324)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
2
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
3
Olanzapine Approved, Investigational Phase 2, Phase 3 132539-06-1 4585
4
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
5
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
6
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
7
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
8
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
9
Citalopram Approved Phase 3 59729-33-8 2771
10
Zinc Approved, Investigational Phase 3 7440-66-6 32051
11
Mecasermin Approved, Investigational Phase 3 68562-41-4
12
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
13
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
14
Edaravone Approved, Investigational Phase 2, Phase 3 89-25-8 70335
15
Sodium citrate Approved, Investigational Phase 3 68-04-2
16
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
17
Pramipexole Approved, Investigational Phase 3 104632-26-0 59868 119570
18
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
19
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
20
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
21
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
22
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
23
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
24
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
25 Nabiximols Investigational Phase 2, Phase 3 56575-23-6
26 Tocotrienol Investigational Phase 3 6829-55-6
27
Cobalamin Experimental Phase 3 13408-78-1 6857388
28
Taurochenodeoxycholic acid Experimental Phase 3 516-35-8 387316
29
Tauroursodeoxycholic acid Experimental, Investigational Phase 3 14605-22-2 12443252
30
Simendan Investigational Phase 3 131741-08-7
31
Ibudilast Investigational Phase 2, Phase 3 50847-11-5 3671
32 Serotonin Uptake Inhibitors Phase 2, Phase 3
33 Serotonin Agents Phase 2, Phase 3
34 Anti-Bacterial Agents Phase 3
35 Botulinum Toxins Phase 2, Phase 3
36 abobotulinumtoxinA Phase 2, Phase 3
37 Botulinum Toxins, Type A Phase 2, Phase 3
38 rimabotulinumtoxinB Phase 2, Phase 3
39 Rho(D) Immune Globulin Phase 3
40 Immunoglobulins, Intravenous Phase 3
41 gamma-Globulins Phase 3
42 Tocopherols Phase 3
43 Tocotrienols Phase 3
44 Hypoglycemic Agents Phase 3
45 Parasympatholytics Phase 3
46 Antibiotics, Antitubercular Phase 3
47 insulin Phase 3
48 Insulin, Globin Zinc Phase 3
49 Sympathomimetics Phase 3
50 Cephalosporins Phase 3

Interventional clinical trials:

(show top 50) (show all 534)
# Name Status NCT ID Phase Drugs
1 Role of Non-invasive Ventilation in Amyotrophic Lateral Sclerosis: Volume Versus Pressure Mode Unknown status NCT00560287 Phase 4
2 Care (Canadian ALS Riluzole Evaluation) Multicentre Phase IV Comparative Study of the Effects of Riluzole 50mg Bid on the Survival of ALS Subjects Compared to Historical Controls Completed NCT00542412 Phase 4 Riluzole
3 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
4 Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS) Completed NCT00613899 Phase 4
5 A Phase III, Multi-Center, Double-Blind, Placebo Controlled, Randomized Study of Creatine Monohydrate in Patients With Amyotrophic Lateral Sclerosis Unknown status NCT00069186 Phase 3 Creatine Monohydrate
6 Randomized, Placebo-controlled Parallel Group Study for the Evaluation of an Oral Dose of 10mg Olanzapine in Combination With Riluzole for the Treatment of Loss of Appetite in Patients With Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00876772 Phase 2, Phase 3 Olanzapine
7 A Fase II, Randomized, Double-Blind, Placebo-Controlled, Multicentre Study for the Safety and Efficacy on Spasticity Symptoms of a Cannabis Sativa Extract in Motor Neuron Disease Patients Completed NCT01776970 Phase 2, Phase 3 Cannabis Sativa extract Oromucosal spray
8 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
9 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
10 A Double-Blind Controlled, Multicenter Phase II/III Study to Assess the Safety and Efficacy of AVP-923 (Dextromethorphan/Quinidine) in the Treatment of Pseudobulbar Affect in Patients With Amyotrophic Lateral Sclerosis Completed NCT00021697 Phase 3 AVP-923
11 The Effect of Granulocyte Colony Stimulating Factor (GCSF) in the Treatment of Amyotrophic Lateral Sclerosis (ALS) Patients Referred to Tehran Imam Khomeini and Shariati Hospital Centers in 2013 Completed NCT01825551 Phase 2, Phase 3 Granulocyte Colony Stimulating Factor;Placebo
12 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
13 A Randomized, Double-Blind, Placebo-Controlled Study of Safety and Efficacy of Botulinum Toxin Type B (Myobloc) in Sialorrhea in Amyotrophic Lateral Sclerosis Completed NCT00125203 Phase 2, Phase 3 Botulinum toxin type B (Myobloc)
14 Phase 2-3 - Memantine for Disability in Amyotrophic Lateral Sclerosis Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;Placebo
15 A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study of the Safety and Efficacy of Dexpramipexole in Subjects With Amyotrophic Lateral Sclerosis Completed NCT01281189 Phase 3 Dexpramipexole;Placebo
16 A European, Randomised, Double-blind, Active Comparator Controlled, Cross-over, Efficacy and Safety Study of a New 10% Ready To-use Liquid Human Intravenous Immunoglobulin (I10E) Versus Kiovig® in Patients With Multifocal Motor Neuropathy Completed NCT01951924 Phase 3 Biological : I10E (Human normal Immunoglobulin for intravenous administration 100mg/mL);Biological: Kiovig® (Human normal Immunoglobulin for intravenous administration 100mg/mL)
17 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
18 A Phase 3, Open-Label Extension Study of Tirasemtiv for Patients With Amyotrophic Lateral Sclerosis (ALS) Who Completed VITALITY-ALS (CY 4031) Completed NCT02936635 Phase 3 tirasemtiv
19 An Expanded Controlled Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis in Double-Blind, Parallel-Group, Placebo-Controlled Manner (Phase 3) Completed NCT00424463 Phase 3 MCI-186;Placebo of MCI-186
20 Efficacy and Safety Study of MCI-186 for Treatment of the Patients With Amyotrophic Lateral Sclerosis (ALS) 2 Completed NCT01492686 Phase 3 MCI-186;Placebo;MCI-186 in open label phase
21 Multicenter, Randomised, Double-blind, Placebo-controlled, Parallel Group, Phase 2/3 Study to Compare the Efficacy and Safety of Masitinib Completed NCT02588677 Phase 2, Phase 3 Masitinib (4.5);Riluzole;Placebo;Masitinib (3.0)
22 A Phase 3, Multi-National, Double-Blind, Randomized, Placebo-Controlled, Stratified, Parallel Group, Study to Evaluate the Safety, Tolerability and Efficacy of Tirasemtiv in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT02496767 Phase 3 tirasemtiv;Placebo tablets;Riluzole 50 MG
23 An Open-label Safety Extension Study of TRO19622 in Amyotrophic Lateral Sclerosis (ALS) Patients Treated With Riluzole Completed NCT01285583 Phase 2, Phase 3 TRO19622
24 An Exploratory Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (Severity Classification III) in Double-Blind, Parallel-Group, Placebo-Controlled Manner Completed NCT00415519 Phase 3 MCI-186;Placebo of MCI-186
25 A Confirmatory Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis in Double-blind, Parallel-group, Placebo-controlled Manner. Completed NCT00330681 Phase 3 MCI-186;Placebo of MCI-186
26 An Open-label, 8- Week, Flexible Dose Trial of Escitalopram (Lexapro®) in Comorbid Major Depression With Amyotrophic Lateral Sclerosis and Multiple Sclerosis Completed NCT00965497 Phase 3 escitalopram
27 Phase II/III Randomized, Placebo-Controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral Sclerosis (ALS) Completed NCT00706147 Phase 2, Phase 3 Arimoclomol;Placebo
28 A Randomized, Double-Blind, Placebo-Controlled Sequential Clinical Trial of Sodium Valproate in ALS Completed NCT00136110 Phase 3 Sodium Valproate
29 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
30 Phase II/III, Multicenter, Randomized, Parallel Group, Double-blind, Placebo Controlled Study to Assess Safety and Efficacy of TRO19622 in Amyotrophic Lateral Sclerosis (ALS) Patients Treated With Riluzole Completed NCT00868166 Phase 3 Olesoxime;Placebo Comparator;Riluzole
31 Randomized Crossover Design Trial of Vitamin E vs Placebo for Treatment of Cramps in Amyotrophic Lateral Sclerosis. Completed NCT00372879 Phase 3
32 Study of Dopamine and Serotonin Transporters in Patients With Amyotrophic Lateral Sclerosis and Controls. Analysis With 123I-FP-CIT (Datscan) and 123I-ADAM Brain SPECT Completed NCT01160263 Phase 3 SPECT : 123 I-FP-CIT (DATSCAN) and 123I-ADAM
33 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
34 Clinical Trial Ceftriaxone in Subjects With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00349622 Phase 3 ceftriaxone
35 Repetitive Transcranial Magnetic Stimulation in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
36 Japanese Early-stage Clinical Trial of Ultra-high Dose Methylcobalamin for Amyotrophic Lateral Sclerosis: a Pivotal Phase 3 Randomized Controlled Study Recruiting NCT03548311 Phase 3 methylcobalamin;saline solution
37 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Phase 2 Study of Cu(II)ATSM in Patients With Amyotrophic Lateral Sclerosis/Motor Neuron Disease Recruiting NCT04082832 Phase 2, Phase 3 Cu(II)ATSM;Placebos
38 A Randomised, Double-blind, Single-centre Study on the Safety, Tolerability and Efficacy of Cannabis Based Medicine Extract (CannTrust CBD Oil) in Slowing the Disease Progression in Amyotrophic Lateral Sclerosis or Motor Neurone Disease Patients Recruiting NCT03690791 Phase 3 CannTrust CBD Oil (capsule);Placebo (capsule)
39 Safety and Efficacy of Tauroursodeoxycholic (TUDCA) as add-on Treatment in Patients Affected by Amyotrophic Lateral Sclerosis (ALS) Recruiting NCT03800524 Phase 3 Tauroursodeoxycholic Acid;Placebo
40 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS: Open-Label Extension for Patients Completing Study 3119002 Recruiting NCT03948178 Phase 3 Levosimendan
41 Conservative Iron Chelation as a Disease-modifying Strategy in Amyotrophic Lateral Sclerosis: Multicentre, Parallel-group, Placebo-controlled, Randomized Clinical Trial of Deferiprone Recruiting NCT03293069 Phase 2, Phase 3 Deferiprone;Placebo Oral Tablet
42 A Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BIIB067 Administered to Adult Subjects With Amyotrophic Lateral Sclerosis and Confirmed Superoxide Dismutase 1 Mutation Recruiting NCT02623699 Phase 3 BIIB067
43 A Phase 3, Randomised, Placebo-Controlled Trial of Arimoclomol in Amyotropic Lateral Sclerosis Active, not recruiting NCT03491462 Phase 3 Arimoclomol;Placebo oral capsule
44 Treatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS) in a Representative Iranian Population Active, not recruiting NCT03272802 Phase 2, Phase 3 Edaravone;Riluzole
45 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS Active, not recruiting NCT03505021 Phase 3 Levosimendan;Placebo for levosimendan
46 A Phase 3, Randomized Double-Blind, Placebo-Controlled Multicenter Study to Evaluate Efficacy and Safety of Repeated Administration of NurOwn® (Autologous Mesenchymal Stem Cells Secreting Neurotrophic Factors) in Participants With ALS Active, not recruiting NCT03280056 Phase 3
47 Open Label, Non-randomized Extension Trial to Assess Long Term Safety and Efficacy of Arimoclomol in Subjects With Amyotropic Lateral Sclerosis Who Have Completed the ORARIALS-01 Trial Enrolling by invitation NCT03836716 Phase 3 Arimoclomol
48 A Phase 2b/3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, 12 Month Clinical Trial to Evaluate the Efficacy and Safety of MN-166 (Ibudilast) Followed by an Open-Label Extension Phase in Subjects With Amyotrophic Lateral Sclerosis Not yet recruiting NCT04057898 Phase 2, Phase 3 MN-166;placebo
49 A Prospective, Multicenter, Randomised, Double-blind, Placebo-controlled, Parallel Groups, Phase 3 Study to Compare the Efficacy and Safety of Masitinib in Combination With Riluzole Versus Placebo in Combination With Riluzole in the Treatment of Patients Suffering From Amyotrophic Lateral Sclerosis (ALS) Not yet recruiting NCT03127267 Phase 3 Masitinib (6.0);Riluzole;Placebo;Masitinib (4.5)
50 An Open-Label, Multicenter, Extension Study to Evaluate the Long-Term Safety and Efficacy of Dexpramipexole (BIIB050) in Subjects With Amyotrophic Lateral Sclerosis Terminated NCT01622088 Phase 3 Dexpramipexole

Search NIH Clinical Center for Motor Neuron Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Motor Neuron Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Motor Neuron Disease:
Embryonic stem cell-derived motor neuron transplantation to treat paralysis
Embryonic/Adult Cultured Cells Related to Motor Neuron Disease:
Neuronal progenitor cells

Genetic Tests for Motor Neuron Disease

Genetic tests related to Motor Neuron Disease:

# Genetic test Affiliating Genes
1 Motor Neuron Disease 29

Anatomical Context for Motor Neuron Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Motor Neuron Disease:

19
Motor Neurones

MalaCards organs/tissues related to Motor Neuron Disease:

40
Brain, Spinal Cord, Bone, Testes, Bone Marrow, Skeletal Muscle, Cortex
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Motor Neuron Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Neural Tube Motor Neural Progenitor Domain Motor Neural Progenitor Cells Potential therapeutic candidate
2 Neural Tube Motor Neural Progenitor Domain Motor Neurons Affected by disease

Publications for Motor Neuron Disease

Articles related to Motor Neuron Disease:

(show top 50) (show all 4919)
# Title Authors PMID Year
1
Transgenic rat model of neurodegeneration caused by mutation in the TDP gene. 54 61
20361056 2010
2
Structural discovery of small molecule binding sites in Cu-Zn human superoxide dismutase familial amyotrophic lateral sclerosis mutants provides insights for lead optimization. 54 61
20067275 2010
3
Induction of amyloid fibrils by the C-terminal fragments of TDP-43 in amyotrophic lateral sclerosis. 54 61
20055380 2010
4
The heritability and genetics of frontotemporal lobar degeneration. 54 61
19884572 2009
5
Progranulin is expressed within motor neurons and promotes neuronal cell survival. 54 61
19860916 2009
6
Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis. 54 61
19596823 2009
7
A positive modifier of spinal muscular atrophy in the SMN2 gene. 54 61
19716110 2009
8
Cytoplasmic inclusions of TDP-43 in neurodegenerative diseases: a potential role for caspases. 54 61
19554515 2009
9
Human neural stem cell grafts in the spinal cord of SOD1 transgenic rats: differentiation and structural integration into the segmental motor circuitry. 54 61
19326469 2009
10
Ciliary neurotrophic factor fused to a protein transduction domain retains full neuroprotective activity in the absence of cytokine-like side effects. 54 61
19457136 2009
11
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy. 54 61
19228773 2009
12
Histone deacetylase inhibition activity and molecular docking of (e )-resveratrol: its therapeutic potential in spinal muscular atrophy. 54 61
19207472 2009
13
Neuropathology and therapeutic intervention in spinal and bulbar muscular atrophy. 54 61
19399234 2009
14
Modulation of mutant superoxide dismutase 1 aggregation by co-expression of wild-type enzyme. 54 61
19077113 2009
15
Increase in presynaptic territory of C-terminals on lumbar motoneurons of G93A SOD1 mice during disease progression. 54 61
19187267 2009
16
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP). 54 61
18810511 2009
17
Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. 54 61
19259967 2009
18
Expression of amyotrophic lateral sclerosis-linked SOD1 mutant increases the neurotoxic potential of microglia via TLR2. 54 61
19091752 2009
19
Neuropathological spectrum of frontal lobe dementias. 54 61
19182473 2009
20
Expression of collagen XVII and ubiquitin-binding protein p62 in motor neuron disease. 54 61
18992722 2009
21
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 54 61
18790819 2009
22
Fine structural analysis of the neuronal inclusions of frontotemporal lobar degeneration with TDP-43 proteinopathy. 54 61
18974920 2008
23
Type-dependent oxidative damage in frontotemporal lobar degeneration: cortical astrocytes are targets of oxidative damage. 54 61
19018247 2008
24
Regulation of dynactin through the differential expression of p150Glued isoforms. 54 61
18812314 2008
25
The contribution of different androgen receptor domains to receptor dimerization and signaling. 54 61
18617596 2008
26
[Frontotemporal lobar degeneration: a descriptive study of 42 patients]. 54 61
18802798 2008
27
White matter lesions in the brain with frontotemporal lobar degeneration with motor neuron disease: TDP-43-immunopositive inclusions co-localize with p62, but not ubiquitin. 54 61
18584184 2008
28
Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. 54 61
18585921 2008
29
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. 54 61
18755042 2008
30
GDNF fusion protein for targeted-drug delivery across the human blood-brain barrier. 54 61
18080333 2008
31
Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS. 54 61
18282652 2008
32
The effect of hydroxyurea in spinal muscular atrophy cells and patients. 54 61
18166199 2008
33
A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. 54 61
17997416 2008
34
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry. 54 61
18379439 2008
35
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 54 61
18183624 2008
36
TDP-43 A315T mutation in familial motor neuron disease. 54 61
18288693 2008
37
TDP-43 immunoreactivity in anoxic, ischemic and neoplastic lesions of the central nervous system. 54 61
18087705 2008
38
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. 54 61
18192287 2008
39
Severe subcortical TDP-43 pathology in sporadic frontotemporal lobar degeneration with motor neuron disease. 54 61
18004574 2008
40
Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. 54 61
17854832 2008
41
Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. 54 61
17713769 2008
42
Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients. 54 61
17850955 2007
43
[Pathogenesis and therapeutic perspectives for amyotrophic lateral sclerosis (ALS)]. 54 61
18210800 2007
44
[Revisit to Kii ALS--the innovated concept of ALS-Parkinsonism-dementia complex, clinicopathological features, epidemiology and etiology]. 54 61
17969346 2007
45
Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases. 54 61
17653732 2007
46
TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease. 54 61
17492294 2007
47
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. 54 61
17591968 2007
48
Common molecular signature in SOD1 for both sporadic and familial amyotrophic lateral sclerosis. 54 61
17636119 2007
49
[Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress]. 54 61
17633104 2007
50
The Rab5 activator ALS2/alsin acts as a novel Rac1 effector through Rac1-activated endocytosis. 54 61
17409386 2007

Variations for Motor Neuron Disease

ClinVar genetic disease variations for Motor Neuron Disease:

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEK1 NM_012224.3(NEK1):c.1864del (p.Gln622fs)deletion other 266042 rs1131690774 4:170428247-170428247 4:169507096-169507096
2 NEK1 NM_012224.3(NEK1):c.481C>T (p.Arg161Ter)SNV other 266058 rs202115635 4:170509870-170509870 4:169588719-169588719
3 NEK1 NM_012224.3(NEK1):c.214+1G>ASNV other 266055 rs1049502301 4:170523158-170523158 4:169602007-169602007
4 TBK1 NM_013254.4(TBK1):c.1432del (p.Thr478fs)deletion other 266066 rs1131690783 12:64882353-64882353 12:64488573-64488573
5 TBK1 NM_013254.4(TBK1):c.2115_2127del (p.Glu706fs)deletion other 266067 rs1131690784 12:64891795-64891807 12:64498015-64498027
6 TBK1 NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)SNV Pathogenic 266072 rs142030898 12:64879787-64879787 12:64486007-64486007
7 SOD1 NM_000454.4(SOD1):c.112G>A (p.Gly38Arg)SNV Pathogenic 14752 rs121912431 21:33036142-33036142 21:31663829-31663829
8 SOD1 NM_000454.4(SOD1):c.302A>G (p.Glu101Gly)SNV Pathogenic 14761 rs121912439 21:33039633-33039633 21:31667320-31667320
9 SOD1 NM_000454.4(SOD1):c.280G>C (p.Gly94Arg)SNV Pathogenic 14784 rs121912437 21:33039611-33039611 21:31667298-31667298
10 SOD1 NM_000454.4(SOD1):c.341T>C (p.Ile114Thr)SNV Pathogenic 197145 rs121912441 21:33039672-33039672 21:31667359-31667359
11 TARDBP NM_007375.3(TARDBP):c.1043G>T (p.Gly348Val)SNV Pathogenic 266064 rs1131690782 1:11082509-11082509 1:11022452-11022452
12 NEK1 NM_012224.3(NEK1):c.3056C>T (p.Ser1019Leu)SNV Likely pathogenic 266054 rs377607698 4:170345786-170345786 4:169424635-169424635
13 OPTN NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg)SNV Likely pathogenic 266062 rs747481280 10:13174068-13174068 10:13132068-13132068
14 TBK1 NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)SNV Likely pathogenic 266068 rs55824172 12:64860774-64860774 12:64466994-64466994
15 OPTN NM_001008212.2(OPTN):c.280A>C (p.Lys94Gln)SNV Likely pathogenic 266059 rs895824243 10:13152387-13152387 10:13110387-13110387
16 NEK1 NM_012224.3(NEK1):c.386T>G (p.Ile129Ser)SNV Likely pathogenic 266043 rs1131690775 4:170511887-170511887 4:169590736-169590736
17 SOD1 NM_000454.4(SOD1):c.437C>A (p.Ala146Asp)SNV Likely pathogenic 266063 rs1131690781 21:33040863-33040863 21:31668550-31668550
18 NEK1 NM_012224.3(NEK1):c.2151T>G (p.Asn717Lys)SNV Conflicting interpretations of pathogenicity 266051 rs34324114 4:170398474-170398474 4:169477323-169477323
19 OPTN NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)SNV Conflicting interpretations of pathogenicity 266060 rs142812715 10:13166053-13166053 10:13124053-13124053
20 TBK1 NM_013254.4(TBK1):c.829C>G (p.Leu277Val)SNV Conflicting interpretations of pathogenicity 266069 rs905184241 12:64875638-64875638 12:64481858-64481858
21 NEK1 NM_012224.3(NEK1):c.695G>A (p.Arg232His)SNV Conflicting interpretations of pathogenicity 266044 rs772747361 4:170506612-170506612 4:169585461-169585461
22 NEK1 NM_012224.3(NEK1):c.1705T>A (p.Phe569Ile)SNV Conflicting interpretations of pathogenicity 266048 rs776098853 4:170429443-170429443 4:169508292-169508292
23 NEK1 NM_012224.3(NEK1):c.1666-5T>CSNV Conflicting interpretations of pathogenicity 266056 rs199522035 4:170429487-170429487 4:169508336-169508336
24 NEK1 NM_012224.3(NEK1):c.1137T>A (p.Asp379Glu)SNV Conflicting interpretations of pathogenicity 266047 rs372585344 4:170482986-170482986 4:169561835-169561835
25 NEK1 NM_012224.3(NEK1):c.1021G>A (p.Ala341Thr)SNV Conflicting interpretations of pathogenicity 266046 rs189186475 4:170483347-170483347 4:169562196-169562196
26 NEK1 NM_012224.3(NEK1):c.782G>A (p.Arg261His)SNV Conflicting interpretations of pathogenicity 199125 rs200161705 4:170506525-170506525 4:169585374-169585374
27 TARDBP NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser)SNV Conflicting interpretations of pathogenicity 21483 rs80356719 1:11082325-11082325 1:11022268-11022268
28 NEK1 NM_012224.3(NEK1):c.1827_1828insTATA (p.Ala610fs)insertion Uncertain significance 266057 rs1131690779 4:170428865-170428866 4:169507714-169507715
29 TARDBP NM_007375.3(TARDBP):c.1122T>G (p.Tyr374Ter)SNV Uncertain significance 266065 rs147795017 1:11082588-11082588 1:11022531-11022531
30 NEK1 NM_012224.3(NEK1):c.827G>T (p.Cys276Phe)SNV Uncertain significance 266045 rs1131690776 4:170502034-170502034 4:169580883-169580883
31 TBK1 NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile)SNV Uncertain significance 266071 rs779715292 12:64883886-64883886 12:64490106-64490106
32 TBK1 NM_013254.4(TBK1):c.1135A>G (p.Ile379Val)SNV Uncertain significance 266070 rs748864346 12:64878225-64878225 12:64484445-64484445
33 OPTN NM_001008212.2(OPTN):c.1337A>G (p.Glu446Gly)SNV Uncertain significance 266061 rs1131690780 10:13169839-13169839 10:13127839-13127839
34 GARS1 NM_002047.4(GARS1):c.123_124insG (p.Pro42fs)insertion Uncertain significance 549699 rs1554336520 7:30634660-30634661 7:30595044-30595045
35 NEK1 NM_012224.3(NEK1):c.2308C>G (p.Leu770Val)SNV Likely benign 266053 rs1131690778 4:170398317-170398317 4:169477166-169477166
36 NEK1 NM_012224.3(NEK1):c.2284G>A (p.Ala762Thr)SNV Likely benign 266052 rs1131690777 4:170398341-170398341 4:169477190-169477190
37 NEK1 NM_012224.3(NEK1):c.2222A>G (p.His741Arg)SNV Likely benign 266050 rs375173827 4:170398403-170398403 4:169477252-169477252
38 NEK1 NM_012224.3(NEK1):c.2053G>A (p.Val685Met)SNV Benign/Likely benign 266049 rs199827465 4:170400556-170400556 4:169479405-169479405

Expression for Motor Neuron Disease

Search GEO for disease gene expression data for Motor Neuron Disease.

Pathways for Motor Neuron Disease

Pathways related to Motor Neuron Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.63 TARDBP SOD1 OPTN NEFH MAPT DCTN1
2
Show member pathways
11.39 SOD1 NEFH ALS2
3 10.94 TBK1 SQSTM1 OPTN

GO Terms for Motor Neuron Disease

Cellular components related to Motor Neuron Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.06 VCP TBK1 TARDBP SQSTM1 SOD1 SMN2
2 azurophil granule lumen GO:0035578 9.63 VCP GRN DYNC1H1
3 cytoplasmic ribonucleoprotein granule GO:0036464 9.54 SMN2 SMN1 MAPT
4 axon cytoplasm GO:1904115 9.5 SOD1 MAPT DYNC1H1
5 SMN-Sm protein complex GO:0034719 9.48 SMN2 SMN1
6 Gemini of coiled bodies GO:0097504 9.43 SMN2 SMN1
7 neuron projection GO:0043005 9.43 SOD1 SMN2 SMN1 MAPT DCTN1 ALS2
8 SMN complex GO:0032797 9.4 SMN2 SMN1
9 neurofibrillary tangle GO:0097418 9.26 NEFH MAPT
10 axon GO:0030424 9.23 SMN2 SMN1 SETX NEFH MAPT DCTN1

Biological processes related to Motor Neuron Disease according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.88 SMN2 SMN1 SETX DCTN1 CNTF
2 cellular response to oxidative stress GO:0034599 9.69 SOD2 SOD1 SETX
3 positive regulation of superoxide anion generation GO:0032930 9.57 SOD1 MAPT
4 regulation of mitotic spindle organization GO:0060236 9.56 DYNC1H1 DCTN1
5 negative regulation of neuron apoptotic process GO:0043524 9.56 SOD2 SOD1 GRN CNTF
6 astrocyte activation GO:0048143 9.55 MAPT CNTF
7 stress granule assembly GO:0034063 9.54 MAPT DYNC1H1
8 axon development GO:0061564 9.52 NEFH MAPT
9 removal of superoxide radicals GO:0019430 9.49 SOD2 SOD1
10 positive regulation of axon regeneration GO:0048680 9.46 GRN CNTF
11 retrograde axonal transport GO:0008090 9.43 SOD1 DYNC1H1
12 neurofilament cytoskeleton organization GO:0060052 9.4 SOD1 NEFH
13 positive regulation of xenophagy GO:1904417 9.37 TBK1 OPTN
14 response to superoxide GO:0000303 9.32 SOD2 SOD1
15 maintenance of synapse structure GO:0099558 9.16 DCTN1 CHCHD10
16 axonal transport GO:0098930 8.96 MAPT DCTN1
17 DNA-templated transcription, termination GO:0006353 8.8 SMN2 SMN1 SETX

Molecular functions related to Motor Neuron Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.11 VCP TBK1 TARDBP SQSTM1 SOD1 SMN2
2 RNA binding GO:0003723 9.86 VCP TARDBP SMN2 SMN1 SETX MAPT
3 chaperone binding GO:0051087 9.54 SOD1 MAPT GRN
4 protein binding, bridging GO:0030674 9.5 OPTN NEFH MAPT
5 identical protein binding GO:0042802 9.36 VCP TBK1 TARDBP SQSTM1 SOD2 SOD1
6 superoxide dismutase activity GO:0004784 8.96 SOD2 SOD1

Sources for Motor Neuron Disease

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
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