MCID: MTR014
MIFTS: 65

Motor Neuron Disease

Categories: Muscle diseases, 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
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 Cytoskeletal Signaling and Neuroscience. The drugs Riluzole and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube, and related phenotypes are Decreased viability and Decreased viability

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

Wikipedia : 74 Motor neuron diseases or motor neurone diseases (MNDs) are a group of rare neurodegenerative disorders... 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 517)
# 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 NEFL DCTN1
3 lateral sclerosis 34.7 VCP TBK1 TARDBP SQSTM1 SOD1 SETX
4 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 34.7 VCP TBK1 TARDBP SQSTM1 SOD1 SETX
5 frontotemporal dementia 34.4 VCP TBK1 TARDBP SQSTM1 SOD1 NEFL
6 primary lateral sclerosis, adult, 1 34.1 SOD1 MAPT ALS2
7 neuronopathy, distal hereditary motor, type viib 34.1 TARDBP DCTN1 AR ALS2
8 spinal and bulbar muscular atrophy, x-linked 1 33.9 TARDBP SOD1 SMN2 SMN1 DCTN1 AR
9 progressive muscular atrophy 33.8 VCP TARDBP SOD1 SMN2 SMN1
10 spinal muscular atrophy 33.7 TARDBP SQSTM1 SOD1 SMN2 SMN1 SETX
11 multisystem proteinopathy 33.5 VCP TARDBP SQSTM1 OPTN
12 progressive bulbar palsy 33.4 SOD1 NEFH ALS2
13 supranuclear palsy, progressive, 1 33.4 VCP TARDBP SOD1 NEFL MAPT GRN
14 pick disease of brain 33.4 VCP TARDBP SQSTM1 SOD1 OPTN NEFL
15 hereditary spastic paraplegia 33.3 VCP TBK1 SETX BSCL2 ALS2
16 distal hereditary motor neuropathies 32.9 SETX DCTN1
17 muscular atrophy 32.7 TARDBP SMN2 SMN1 SETX DCTN1 CHCHD10
18 amyotrophic lateral sclerosis 4, juvenile 32.6 TARDBP SOD1 SETX OPTN ALS2
19 neuronopathy, distal hereditary motor, type va 32.3 SMN2 SMN1 DCTN1 BSCL2
20 dementia 32.3 VCP TBK1 TARDBP SQSTM1 SOD1 MAPT
21 neuromuscular disease 32.1 VCP SOD1 SMN2 SMN1 NEFL NEFH
22 spinal muscular atrophy, distal, autosomal recessive, 1 31.9 SMN2 SMN1 SETX
23 aphasia 31.8 VCP TBK1 TARDBP OPTN MAPT GRN
24 peripheral nervous system disease 31.8 SOD1 SMN2 SMN1 SETX OPTN NEFL
25 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 31.7 TARDBP SOD1 MAPT
26 apraxia 31.6 SETX MAPT GRN
27 charcot-marie-tooth disease 31.5 VCP TARDBP SOD1 SMN2 SMN1 SETX
28 tooth disease 31.5 VCP NEFL NEFH BSCL2
29 semantic dementia 31.4 TARDBP MAPT GRN
30 myopathy 31.4 VCP TARDBP SQSTM1 SOD2 SOD1 SMN1
31 axonal neuropathy 31.3 SETX NEFL NEFH
32 parkinson disease, late-onset 31.3 VCP SQSTM1 SOD2 SOD1 NEFL MAPT
33 progressive non-fluent aphasia 31.3 VCP TBK1 MAPT GRN
34 nominal aphasia 31.3 VCP TARDBP MAPT GRN
35 movement disease 31.2 TARDBP MAPT GRN
36 alzheimer disease 31.2 VCP TARDBP SQSTM1 SOD2 SOD1 NEFL
37 autosomal dominant cerebellar ataxia 31.2 VCP TARDBP SOD1 SETX MAPT AR
38 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 31.2 TARDBP SOD1 SETX OPTN ALS2
39 spinocerebellar ataxia 2 31.1 TARDBP SOD1 SETX OPTN ALS2
40 amyotrophic lateral sclerosis 8 31.1 VCP TARDBP SOD1 SETX OPTN ALS2
41 huntington disease 31.1 SQSTM1 SOD2 SOD1 MAPT CNTF
42 prion disease 31.1 TARDBP SOD2 SOD1 MAPT
43 perry syndrome 31.0 VCP TARDBP MAPT GRN DCTN1
44 proximal spinal muscular atrophy 31.0 SMN2 SMN1 SETX
45 agraphia 31.0 VCP TARDBP MAPT GRN
46 dysgraphia 31.0 TARDBP MAPT GRN
47 prosopagnosia 31.0 TARDBP MAPT GRN
48 inclusion body myositis 31.0 VCP TARDBP SQSTM1 MAPT
49 dystonia 31.0 SQSTM1 SETX GRN DCTN1 BSCL2 ALS2
50 paget's disease of bone 30.9 VCP SQSTM1 OPTN

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

GenomeRNAi Phenotypes related to Motor Neuron Disease according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.83 DCTN1
2 Decreased viability GR00221-A-1 9.83 TBK1
3 Decreased viability GR00221-A-2 9.83 SOD1 TBK1
4 Decreased viability GR00221-A-3 9.83 SOD1
5 Decreased viability GR00221-A-4 9.83 SOD1
6 Decreased viability GR00231-A 9.83 SQSTM1
7 Decreased viability GR00240-S-1 9.83 SMN2
8 Decreased viability GR00249-S 9.83 DCTN1 MAPT OPTN SOD1 SOD2 TBK1
9 Decreased viability GR00301-A 9.83 TBK1
10 Decreased viability GR00342-S-1 9.83 TBK1
11 Decreased viability GR00342-S-2 9.83 TBK1
12 Decreased viability GR00381-A-1 9.83 SQSTM1 VCP
13 Decreased viability GR00386-A-1 9.83 GRN NEFL OPTN SETX
14 Decreased viability GR00402-S-2 9.83 CHCHD10 CNTF GRN MAPT NEFH SETX

MGI Mouse Phenotypes related to Motor Neuron Disease:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.43 ALS2 AR BSCL2 CHCHD10 CNTF DCTN1
2 cellular MP:0005384 10.39 AR BSCL2 CHCHD10 CNTF DCTN1 GRN
3 homeostasis/metabolism MP:0005376 10.36 ALS2 AR BSCL2 CHCHD10 CNTF DCTN1
4 immune system MP:0005387 10.34 ALS2 AR BSCL2 CHCHD10 CNTF DCTN1
5 hematopoietic system MP:0005397 10.32 AR BSCL2 CHCHD10 CNTF DCTN1 GRN
6 growth/size/body region MP:0005378 10.27 ALS2 AR BSCL2 CHCHD10 GRN MAPT
7 mortality/aging MP:0010768 10.2 ALS2 AR BSCL2 CHCHD10 DCTN1 GRN
8 integument MP:0010771 10.1 AR BSCL2 GRN MAPT SMN2 SOD1
9 nervous system MP:0003631 10.06 ALS2 AR BSCL2 CHCHD10 CNTF DCTN1
10 muscle MP:0005369 10 ALS2 AR CHCHD10 CNTF DCTN1 MAPT
11 liver/biliary system MP:0005370 9.91 AR BSCL2 GRN SOD1 SOD2 SQSTM1
12 no phenotypic analysis MP:0003012 9.56 BSCL2 CNTF GRN MAPT OPTN SMN2
13 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 309)
# 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
Methylcobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
5
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
6
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
7
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 15589840 11953898
8
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
9
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
10
Ceftriaxone Approved Phase 3 73384-59-5 5361919 5479530
11
Citalopram Approved Phase 3 59729-33-8 2771
12
Mecasermin Approved, Investigational Phase 3 68562-41-4
13
Memantine Approved, Investigational Phase 2, Phase 3 19982-08-2 4054
14
Ravulizumab Approved, Investigational Phase 3 1803171-55-2
15
Trazodone Approved, Investigational Phase 2, Phase 3 19794-93-5 5533
16
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 27284 23925
17
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
18
Sodium citrate Approved, Investigational Phase 3 68-04-2
19
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
20
Pramipexole Approved, Investigational Phase 3 104632-26-0 119570 59868
21
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
22
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
23
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
24
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
25
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
26
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
27 Nabiximols Investigational Phase 2, Phase 3 56575-23-6
28 Molgramostim Investigational Phase 2, Phase 3 99283-10-0
29
Cobalamin Experimental Phase 2, Phase 3 13408-78-1 6857388
30
Tauroursodeoxycholic acid Experimental, Investigational Phase 3 14605-22-2 12443252
31
Simendan Investigational Phase 3 131741-08-7
32 Trace Elements Phase 3
33 Nutrients Phase 3
34 Micronutrients Phase 3
35 Vitamin B 12 Phase 2, Phase 3
36 Vitamin B12 Phase 2, Phase 3
37 abobotulinumtoxinA Phase 2, Phase 3
38 Botulinum Toxins Phase 2, Phase 3
39 Botulinum Toxins, Type A Phase 2, Phase 3
40 Anti-Bacterial Agents Phase 3
41 rimabotulinumtoxinB Phase 2, Phase 3
42 Immunoglobulins, Intravenous Phase 3
43 Rho(D) Immune Globulin Phase 3
44 gamma-Globulins Phase 3
45 Antibiotics, Antitubercular Phase 3
46 Insulin, Globin Zinc Phase 3
47 insulin Phase 3
48 Cephalosporins Phase 3
49 Complement System Proteins Phase 3
50 Anti-Anxiety Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 569)
# 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 Japanese Early-stage Clinical Trial of Ultra-high Dose Methylcobalamin for Amyotrophic Lateral Sclerosis: a Pivotal Phase 3 Randomized Controlled Study Unknown status NCT03548311 Phase 3 methylcobalamin;saline solution
6 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
7 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
8 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
9 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
10 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
11 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
12 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
13 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
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 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)
16 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
17 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
18 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)
19 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)
20 Evaluation of the Safety, Tolerability, Efficacy and Activity of AMX0035, a Fixed Combination of Phenylbutyrate (PB) and Tauroursodeoxycholic Acid (TUDCA), for the Treatment of ALS Completed NCT03127514 Phase 2, Phase 3 AMX0035
21 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
22 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
23 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
24 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
25 An Open-label Safety Extension Study of TRO19622 in Amyotrophic Lateral Sclerosis (ALS) Patients Treated With Riluzole Completed NCT01285583 Phase 2, Phase 3 TRO19622
26 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
27 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
28 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
29 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
30 Randomized Crossover Design Trial of Vitamin E vs Placebo for Treatment of Cramps in Amyotrophic Lateral Sclerosis. Completed NCT00372879 Phase 3
31 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
32 A Randomized, Double-Blind, Placebo-Controlled Sequential Clinical Trial of Sodium Valproate in ALS Completed NCT00136110 Phase 3 Sodium Valproate
33 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
34 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
35 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
36 Clinical Trial Ceftriaxone in Subjects With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00349622 Phase 3 ceftriaxone
37 Repetitive Transcranial Magnetic Stimulation in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
38 A Phase 3, Double-Blind, Randomized, Placebo-Controlled, Parallel Group, Multicenter Study With an Open-Label Extension to Evaluate the Efficacy and Safety of Ravulizumab in Patients With Amyotrophic Lateral Sclerosis (ALS) Recruiting NCT04248465 Phase 3 Placebo
39 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
40 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 Recruiting NCT04057898 Phase 2, Phase 3 MN-166;placebo
41 Motor Neurone Disease - Systematic Multi-Arm Adaptive Randomised Trial Recruiting NCT04302870 Phase 2, Phase 3 Memantine Hydrochloride Oral Solution;Trazodone Hydrochloride oral solution;Placebo oral solution
42 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
43 A Randomised, Double-blind, Single-centre Study on the Safety, Tolerability and Efficacy of Cannabis Based Medicine Extract (MediCabilis CBD Oil) in Slowing the Disease Progression in Amyotrophic Lateral Sclerosis or Motor Neurone Disease Patients Recruiting NCT03690791 Phase 3 MediCabilis CBD Oil;Placebo Oil
44 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
45 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
46 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
47 A Phase 3, Randomised, Placebo-Controlled Trial of Arimoclomol in Amyotropic Lateral Sclerosis Active, not recruiting NCT03491462 Phase 3 Arimoclomol;Placebo oral capsule
48 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
49 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS Active, not recruiting NCT03505021 Phase 3 Levosimendan;Placebo for levosimendan
50 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

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, Cortex, Skeletal Muscle
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 5004)
# Title Authors PMID Year
1
Transgenic rat model of neurodegeneration caused by mutation in the TDP gene. 54 61
20361056 2010
2
Induction of amyloid fibrils by the C-terminal fragments of TDP-43 in amyotrophic lateral sclerosis. 54 61
20055380 2010
3
Structural discovery of small molecule binding sites in Cu-Zn human superoxide dismutase familial amyotrophic lateral sclerosis mutants provides insights for lead optimization. 61 54
20067275 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. 61 54
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. 61 54
19554515 2009
9
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
10
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
11
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy. 61 54
19228773 2009
12
Neuropathology and therapeutic intervention in spinal and bulbar muscular atrophy. 61 54
19399234 2009
13
Histone deacetylase inhibition activity and molecular docking of (e )-resveratrol: its therapeutic potential in spinal muscular atrophy. 61 54
19207472 2009
14
Increase in presynaptic territory of C-terminals on lumbar motoneurons of G93A SOD1 mice during disease progression. 54 61
19187267 2009
15
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
16
Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. 61 54
19259967 2009
17
Expression of amyotrophic lateral sclerosis-linked SOD1 mutant increases the neurotoxic potential of microglia via TLR2. 61 54
19091752 2009
18
Modulation of mutant superoxide dismutase 1 aggregation by co-expression of wild-type enzyme. 61 54
19077113 2009
19
Expression of collagen XVII and ubiquitin-binding protein p62 in motor neuron disease. 61 54
18992722 2009
20
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 61 54
18790819 2009
21
Neuropathological spectrum of frontal lobe dementias. 54 61
19182473 2009
22
Fine structural analysis of the neuronal inclusions of frontotemporal lobar degeneration with TDP-43 proteinopathy. 61 54
18974920 2008
23
Type-dependent oxidative damage in frontotemporal lobar degeneration: cortical astrocytes are targets of oxidative damage. 54 61
19018247 2008
24
The contribution of different androgen receptor domains to receptor dimerization and signaling. 54 61
18617596 2008
25
Regulation of dynactin through the differential expression of p150Glued isoforms. 54 61
18812314 2008
26
[Frontotemporal lobar degeneration: a descriptive study of 42 patients]. 61 54
18802798 2008
27
Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. 54 61
18585921 2008
28
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. 61 54
18755042 2008
29
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. 61 54
18584184 2008
30
GDNF fusion protein for targeted-drug delivery across the human blood-brain barrier. 61 54
18080333 2008
31
The effect of hydroxyurea in spinal muscular atrophy cells and patients. 54 61
18166199 2008
32
Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS. 61 54
18282652 2008
33
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry. 61 54
18379439 2008
34
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 61 54
18183624 2008
35
TDP-43 A315T mutation in familial motor neuron disease. 61 54
18288693 2008
36
A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. 61 54
17997416 2008
37
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
38
TDP-43 immunoreactivity in anoxic, ischemic and neoplastic lesions of the central nervous system. 61 54
18087705 2008
39
Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. 54 61
17854832 2008
40
Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. 54 61
17713769 2008
41
Severe subcortical TDP-43 pathology in sporadic frontotemporal lobar degeneration with motor neuron disease. 61 54
18004574 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)]. 61 54
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 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. 54 61
17591968 2007
47
Common molecular signature in SOD1 for both sporadic and familial amyotrophic lateral sclerosis. 61 54
17636119 2007
48
TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease. 54 61
17492294 2007
49
The Rab5 activator ALS2/alsin acts as a novel Rac1 effector through Rac1-activated endocytosis. 61 54
17409386 2007
50
[Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress]. 54 61
17633104 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 TBK1 NM_013254.4(TBK1):c.2115_2127del (p.Glu706fs)deletion other 266067 rs1131690784 12:64891795-64891807 12:64498015-64498027
2 NEK1 NM_012224.3(NEK1):c.1864del (p.Gln622fs)deletion other 266042 rs1131690774 4:170428247-170428247 4:169507096-169507096
3 NEK1 NM_012224.3(NEK1):c.481C>T (p.Arg161Ter)SNV other 266058 rs202115635 4:170509870-170509870 4:169588719-169588719
4 NEK1 NM_012224.3(NEK1):c.214+1G>ASNV other 266055 rs1049502301 4:170523158-170523158 4:169602007-169602007
5 TBK1 NM_013254.4(TBK1):c.1432del (p.Thr478fs)deletion other 266066 rs1131690783 12:64882353-64882353 12:64488573-64488573
6 TBK1 NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)SNV Pathogenic 266072 rs142030898 12:64879787-64879787 12:64486007-64486007
7 TARDBP NM_007375.3(TARDBP):c.1043G>T (p.Gly348Val)SNV Pathogenic 266064 rs1131690782 1:11082509-11082509 1:11022452-11022452
8 SOD1 NM_000454.4(SOD1):c.341T>C (p.Ile114Thr)SNV Pathogenic 197145 rs121912441 21:33039672-33039672 21:31667359-31667359
9 SOD1 NM_000454.4(SOD1):c.112G>A (p.Gly38Arg)SNV Pathogenic 14752 rs121912431 21:33036142-33036142 21:31663829-31663829
10 SOD1 NM_000454.4(SOD1):c.302A>G (p.Glu101Gly)SNV Pathogenic 14761 rs121912439 21:33039633-33039633 21:31667320-31667320
11 SOD1 NM_000454.4(SOD1):c.280G>C (p.Gly94Arg)SNV Pathogenic 14784 rs121912437 21:33039611-33039611 21:31667298-31667298
12 SOD1 NM_000454.4(SOD1):c.437C>A (p.Ala146Asp)SNV Likely pathogenic 266063 rs1131690781 21:33040863-33040863 21:31668550-31668550
13 NEK1 NM_012224.3(NEK1):c.3056C>T (p.Ser1019Leu)SNV Likely pathogenic 266054 rs377607698 4:170345786-170345786 4:169424635-169424635
14 OPTN NM_001008212.2(OPTN):c.280A>C (p.Lys94Gln)SNV Likely pathogenic 266059 rs895824243 10:13152387-13152387 10:13110387-13110387
15 OPTN NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg)SNV Likely pathogenic 266062 rs747481280 10:13174068-13174068 10:13132068-13132068
16 TBK1 NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)SNV Likely pathogenic 266068 rs55824172 12:64860774-64860774 12:64466994-64466994
17 NEK1 NM_012224.3(NEK1):c.386T>G (p.Ile129Ser)SNV Likely pathogenic 266043 rs1131690775 4:170511887-170511887 4:169590736-169590736
18 NEK1 NM_012224.3(NEK1):c.695G>A (p.Arg232His)SNV Conflicting interpretations of pathogenicity 266044 rs772747361 4:170506612-170506612 4:169585461-169585461
19 NEK1 NM_012224.3(NEK1):c.1705T>A (p.Phe569Ile)SNV Conflicting interpretations of pathogenicity 266048 rs776098853 4:170429443-170429443 4:169508292-169508292
20 NEK1 NM_012224.3(NEK1):c.1666-5T>CSNV Conflicting interpretations of pathogenicity 266056 rs199522035 4:170429487-170429487 4:169508336-169508336
21 NEK1 NM_012224.3(NEK1):c.1137T>A (p.Asp379Glu)SNV Conflicting interpretations of pathogenicity 266047 rs372585344 4:170482986-170482986 4:169561835-169561835
22 NEK1 NM_012224.3(NEK1):c.1021G>A (p.Ala341Thr)SNV Conflicting interpretations of pathogenicity 266046 rs189186475 4:170483347-170483347 4:169562196-169562196
23 TBK1 NM_013254.4(TBK1):c.829C>G (p.Leu277Val)SNV Conflicting interpretations of pathogenicity 266069 rs905184241 12:64875638-64875638 12:64481858-64481858
24 OPTN NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)SNV Conflicting interpretations of pathogenicity 266060 rs142812715 10:13166053-13166053 10:13124053-13124053
25 NEK1 NM_012224.3(NEK1):c.2222A>G (p.His741Arg)SNV Conflicting interpretations of pathogenicity 266050 rs375173827 4:170398403-170398403 4:169477252-169477252
26 NEK1 NM_012224.3(NEK1):c.2151T>G (p.Asn717Lys)SNV Conflicting interpretations of pathogenicity 266051 rs34324114 4:170398474-170398474 4:169477323-169477323
27 NEK1 NM_012224.3(NEK1):c.2053G>A (p.Val685Met)SNV Conflicting interpretations of pathogenicity 266049 rs199827465 4:170400556-170400556 4:169479405-169479405
28 NEK1 NM_012224.3(NEK1):c.782G>A (p.Arg261His)SNV Conflicting interpretations of pathogenicity 199125 rs200161705 4:170506525-170506525 4:169585374-169585374
29 TARDBP NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser)SNV Conflicting interpretations of pathogenicity 21483 rs80356719 1:11082325-11082325 1:11022268-11022268
30 NEK1 NM_012224.3(NEK1):c.1827_1828insTATA (p.Ala610fs)insertion Uncertain significance 266057 rs1131690779 4:170428865-170428866 4:169507714-169507715
31 TARDBP NM_007375.3(TARDBP):c.1122T>G (p.Tyr374Ter)SNV Uncertain significance 266065 rs147795017 1:11082588-11082588 1:11022531-11022531
32 OPTN NM_001008212.2(OPTN):c.1337A>G (p.Glu446Gly)SNV Uncertain significance 266061 rs1131690780 10:13169839-13169839 10:13127839-13127839
33 TBK1 NM_013254.4(TBK1):c.1135A>G (p.Ile379Val)SNV Uncertain significance 266070 rs748864346 12:64878225-64878225 12:64484445-64484445
34 NEK1 NM_012224.3(NEK1):c.827G>T (p.Cys276Phe)SNV Uncertain significance 266045 rs1131690776 4:170502034-170502034 4:169580883-169580883
35 GARS1 NM_002047.4(GARS1):c.123_124insG (p.Pro42fs)insertion Uncertain significance 549699 rs1554336520 7:30634660-30634661 7:30595044-30595045
36 TBK1 NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile)SNV Uncertain significance 266071 rs779715292 12:64883886-64883886 12:64490106-64490106
37 NEK1 NM_012224.3(NEK1):c.2308C>G (p.Leu770Val)SNV Likely benign 266053 rs1131690778 4:170398317-170398317 4:169477166-169477166
38 NEK1 NM_012224.3(NEK1):c.2284G>A (p.Ala762Thr)SNV Likely benign 266052 rs1131690777 4:170398341-170398341 4:169477190-169477190

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 12.16 VCP NEFL MAPT DCTN1
2 11.7 TARDBP SOD1 OPTN NEFL NEFH MAPT
3
Show member pathways
11.53 NEFL NEFH DCTN1
4 11.27 TBK1 SQSTM1 OPTN
5 11.23 SOD1 NEFL NEFH ALS2
6 11.16 SOD1 NEFL NEFH

GO Terms for Motor Neuron Disease

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.3 VCP TBK1 SQSTM1 SOD1 SMN2 SMN1
2 cytoplasm GO:0005737 10.06 VCP TBK1 TARDBP SQSTM1 SOD1 SMN2
3 cytoplasmic ribonucleoprotein granule GO:0036464 9.63 SMN2 SMN1 MAPT
4 growth cone GO:0030426 9.62 SETX NEFL MAPT ALS2
5 axon cytoplasm GO:1904115 9.58 SOD1 NEFL MAPT
6 SMN-Sm protein complex GO:0034719 9.51 SMN2 SMN1
7 neuron projection GO:0043005 9.5 SOD1 SMN2 SMN1 NEFL MAPT DCTN1
8 Gemini of coiled bodies GO:0097504 9.49 SMN2 SMN1
9 SMN complex GO:0032797 9.48 SMN2 SMN1
10 neurofilament GO:0005883 9.43 NEFL NEFH
11 neurofibrillary tangle GO:0097418 9.37 NEFH MAPT
12 axon GO:0030424 9.28 SMN2 SMN1 SETX NEFL NEFH MAPT
13 postsynaptic intermediate filament cytoskeleton GO:0099160 9.26 NEFL NEFH

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.96 SMN2 SMN1 SETX DCTN1 CNTF
2 cellular response to oxidative stress GO:0034599 9.74 SOD2 SOD1 SETX
3 positive regulation of superoxide anion generation GO:0032930 9.59 SOD1 MAPT
4 astrocyte activation GO:0048143 9.58 MAPT CNTF
5 protein polymerization GO:0051258 9.58 NEFL MAPT
6 removal of superoxide radicals GO:0019430 9.55 SOD2 SOD1
7 negative regulation of neuron apoptotic process GO:0043524 9.55 SOD2 SOD1 NEFL GRN CNTF
8 retrograde axonal transport GO:0008090 9.54 SOD1 NEFL
9 positive regulation of axon regeneration GO:0048680 9.52 GRN CNTF
10 axonal transport of mitochondrion GO:0019896 9.51 NEFL MAPT
11 positive regulation of xenophagy GO:1904417 9.49 TBK1 OPTN
12 maintenance of synapse structure GO:0099558 9.48 DCTN1 CHCHD10
13 intermediate filament bundle assembly GO:0045110 9.46 NEFL NEFH
14 response to superoxide GO:0000303 9.43 SOD2 SOD1
15 axon development GO:0061564 9.43 NEFL NEFH MAPT
16 axonal transport GO:0098930 9.4 MAPT DCTN1
17 postsynaptic intermediate filament cytoskeleton organization GO:0099185 9.37 NEFL NEFH
18 neurofilament bundle assembly GO:0033693 9.32 NEFL NEFH
19 DNA-templated transcription, termination GO:0006353 9.13 SMN2 SMN1 SETX
20 neurofilament cytoskeleton organization GO:0060052 8.8 SOD1 NEFL NEFH

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 10.28 VCP TBK1 TARDBP SQSTM1 SOD1 SMN2
2 RNA binding GO:0003723 9.95 VCP TARDBP SMN2 SMN1 SETX MAPT
3 chaperone binding GO:0051087 9.54 SOD1 MAPT GRN
4 identical protein binding GO:0042802 9.44 VCP TBK1 TARDBP SQSTM1 SOD2 SOD1
5 superoxide dismutase activity GO:0004784 9.26 SOD2 SOD1
6 protein binding, bridging GO:0030674 9.26 OPTN NEFL NEFH MAPT
7 structural constituent of postsynaptic intermediate filament cytoskeleton GO:0099184 9.16 NEFL NEFH

Sources for Motor Neuron Disease

3 CDC
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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
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44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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