MCID: MTR014
MIFTS: 64

Motor Neuron Disease

Categories: Neuronal diseases, Rare diseases
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Aliases & Classifications for Motor Neuron Disease

MalaCards integrated aliases for Motor Neuron Disease:

Name: Motor Neuron Disease 11 58 75 28 53 5 14 36 16 71 31 33
Anterior Horn Cell Disease 58 33
Motor Neuron Diseases 52 75
Hereditary Motor Neuron Disease 33
Mnd - [motor Neurone Disease] 33
Bulbar Motor Neuron Disease 33
Anterior Horn Cell Disorder 33
Lou Gehrig Disease 33
Creeping Paralysis 33
Bulbar Syndrome 33
Creeping Palsy 33

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:231
ICD9CM 34 335.2
MeSH 43 D016472
SNOMED-CT 68 37340000
ICD10 31 G12.2
MESH via Orphanet 44 D016472
ICD10 via Orphanet 32 G12.2
UMLS via Orphanet 72 C0085084 C0154681
Orphanet 58 ORPHA98503
UMLS 71 C0085084

Summaries for Motor Neuron Disease

NINDS: 52 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 frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 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 Mexiletine and Coconut have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube, and related phenotypes are nervous system and homeostasis/metabolism

Disease Ontology: 11 A neurodegenerative disease that is located in the motor neurons.

Wikipedia 75 Motor neuron disease: Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease,... more...

Motor neuron diseases: 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 655)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 1 34.0 VCP TBK1 TARDBP SQSTM1 SOD2 SOD1
2 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 33.7 VCP TBK1 TARDBP SQSTM1 SOD1 OPTN
3 lateral sclerosis 33.6 VCP TBK1 TARDBP SQSTM1 SOD1 OPTN
4 frontotemporal dementia 33.4 VCP TBK1 TARDBP SQSTM1 SOD1 OPTN
5 neuronopathy, distal hereditary motor, type viib 33.2 TARDBP DCTN1 ALS2
6 spinal and bulbar muscular atrophy, x-linked 1 33.0 VCP TARDBP SOD1 SMN2 SMN1 NEFH
7 progressive muscular atrophy 33.0 VCP TARDBP SOD1 SMN2 SMN1 OPTN
8 spinal muscular atrophy 32.8 SOD1 SMN2 SMN1 MPZ DCTN1 CNTF
9 genetic motor neuron disease 32.8 MPZ DCTN1
10 progressive bulbar palsy 32.8 SOD1 NEFH ALS2
11 hereditary spastic paraplegia 32.8 VCP TARDBP SQSTM1 SOD1 SMN2 SMN1
12 pick disease of brain 32.8 VCP TARDBP SQSTM1 SOD1 OPTN NEFH
13 multisystem proteinopathy 32.7 VCP TARDBP SQSTM1 OPTN
14 supranuclear palsy, progressive, 1 32.7 VCP TARDBP SOD1 NEFH MAPT GRN
15 amyotrophic lateral sclerosis 4, juvenile 32.7 TARDBP SOD1 ALS2
16 muscular atrophy 32.5 TARDBP SQSTM1 SMN2 SMN1 MAPT DCTN1
17 neuromuscular disease 32.1 VCP TARDBP SOD1 SMN2 SMN1 NEFH
18 dementia 32.1 VCP TBK1 TARDBP SQSTM1 SOD1 OPTN
19 dementia, lewy body 31.9 VCP TARDBP SQSTM1 SOD1 MAPT GRN
20 parkinsonism 31.8 TARDBP MAPT GRN DCTN1
21 neuropathy 31.8 SOD2 OPTN MPZ BSCL2
22 aphasia 31.7 VCP TBK1 TARDBP OPTN MAPT GRN
23 myopathy 31.6 VCP SQSTM1 SOD1 SMN2 SMN1 MAPT
24 peripheral nervous system disease 31.6 SQSTM1 SOD1 SMN2 SMN1 OPTN NEFH
25 charcot-marie-tooth disease 31.5 VCP TARDBP SQSTM1 SOD1 SMN2 SMN1
26 neuronopathy, distal hereditary motor, type va 31.5 SMN2 SMN1 MPZ BSCL2 ALS2
27 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 31.4 TARDBP SOD1 MAPT
28 alzheimer disease, familial, 1 31.4 VCP TARDBP SQSTM1 SOD2 SOD1 NEFH
29 parkinson disease, late-onset 31.3 VCP SQSTM1 SOD2 SOD1 MAPT DCTN1
30 movement disease 31.3 VCP TARDBP SOD1 MAPT GRN DCTN1
31 nominal aphasia 31.3 VCP TARDBP MAPT GRN
32 pseudobulbar palsy 31.3 TARDBP SOD1 MAPT
33 progressive non-fluent aphasia 31.2 VCP TBK1 MAPT GRN
34 inclusion body myopathy with paget disease of bone and frontotemporal dementia 31.2 VCP TARDBP SQSTM1 SOD1 OPTN MAPT
35 spinal muscular atrophy, type i 31.2 SOD1 SMN2 SMN1
36 retinitis pigmentosa 31.2 VCP SOD2 SOD1 SMN2 SMN1 OPTN
37 corticobasal degeneration 31.1 TARDBP MAPT
38 autosomal dominant cerebellar ataxia 31.1 VCP TARDBP SOD1 MAPT
39 spinocerebellar ataxia 2 31.1 VCP TARDBP SOD1 OPTN CHCHD10 ALS2
40 paget's disease of bone 31.1 VCP TBK1 TARDBP SQSTM1 OPTN GRN
41 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 31.1 VCP TARDBP MAPT GRN
42 huntington disease 31.1 TARDBP SQSTM1 SOD1 MAPT CNTF
43 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 31.1 MAPT GRN
44 charcot-marie-tooth disease, axonal, type 2e 31.1 VCP SQSTM1 SOD1 SMN2 SMN1 NEFH
45 speech and communication disorders 31.0 VCP TARDBP MAPT GRN
46 distal hereditary motor neuronopathy type 2 31.0 MPZ DCTN1 BSCL2
47 alexia 31.0 VCP TARDBP MAPT GRN
48 agraphia 31.0 VCP TARDBP MAPT GRN
49 prosopagnosia 31.0 VCP TARDBP MAPT GRN
50 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 31.0 TARDBP SOD1 OPTN ALS2

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 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.46 ALS2 BSCL2 CHCHD10 CNTF DCTN1 GRN
2 homeostasis/metabolism MP:0005376 10.45 ALS2 BSCL2 CHCHD10 CNTF DCTN1 GRN
3 behavior/neurological MP:0005386 10.33 ALS2 BSCL2 CHCHD10 CNTF DCTN1 GRN
4 cellular MP:0005384 10.31 BSCL2 CHCHD10 CNTF DCTN1 GRN MAPT
5 growth/size/body region MP:0005378 10.27 ALS2 BSCL2 CHCHD10 GRN MAPT NEK1
6 muscle MP:0005369 10.24 ALS2 CHCHD10 CNTF DCTN1 MAPT SMN1
7 immune system MP:0005387 10.24 ALS2 BSCL2 CHCHD10 CNTF DCTN1 GRN
8 no phenotypic analysis MP:0003012 10.18 BSCL2 CNTF GRN MAPT OPTN SMN1
9 reproductive system MP:0005389 10.06 BSCL2 CHCHD10 CNTF GRN MPZ NEK1
10 hematopoietic system MP:0005397 10 BSCL2 CNTF DCTN1 GRN MAPT MPZ
11 skeleton MP:0005390 9.91 BSCL2 CHCHD10 NEK1 SMN1 SMN2 SOD1
12 mortality/aging MP:0010768 9.89 ALS2 BSCL2 CHCHD10 DCTN1 GRN MAPT
13 integument MP:0010771 9.4 BSCL2 GRN MAPT MPZ NEK1 SMN1

Drugs & Therapeutics for Motor Neuron Disease

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

(show top 50) (show all 340)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 4 5370-01-4, 31828-71-4 4178
2 Coconut Approved Phase 4
3
Cannabidiol Approved, Investigational Phase 4 13956-29-1 521372 644019
4
Dronabinol Approved, Illicit Phase 4 1972-08-3 16078
5 Anti-Arrhythmia Agents Phase 4
6 Sodium Channel Blockers Phase 4
7 Diuretics, Potassium Sparing Phase 4
8
Olanzapine Approved, Investigational Phase 2, Phase 3 132539-06-1 135398745 4585
9
Ceftriaxone Approved Phase 3 73384-59-5 5479530
10
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
11
Quinidine Approved, Investigational Phase 3 56-54-2, 130-95-0, 804-63-7 1065 441074 3034034 8549
12
Dextromethorphan Approved Phase 3 125-71-3 5362449 5360696
13
Mecobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
14
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
15
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 15589840 44475014
16
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
17
Minocycline Approved, Investigational Phase 3 10118-90-8, 13614-98-7 54675783 5281021
18
Mecasermin Approved, Investigational Phase 3 68562-41-4
19
Citalopram Approved Phase 3 59729-32-7, 59729-33-8 2771
20
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
21
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
22
Memantine Approved, Investigational Phase 2, Phase 3 41100-52-1, 19982-08-2 4054
23
Trazodone Approved, Investigational Phase 2, Phase 3 19794-93-5 5533
24
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
25
Edaravone Approved, Investigational Phase 3 89-25-8 4021 70335
26
Dolutegravir Approved Phase 3 1051375-16-6 57414794 54726191
27
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
28
Abacavir Approved, Investigational Phase 3 136470-78-5, 188062-50-2 441300
29
Iron Approved Phase 2, Phase 3 7439-89-6 29936
30
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
31
Coal tar Approved Phase 2, Phase 3 8007-45-2
32
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
33
Pramipexole Approved, Investigational Phase 3 104632-26-0, 104632-25-9, 104632-28-2 4885 119570 59868
34
Sodium citrate Approved, Investigational Phase 3 68-04-2 23431961
35
Ravulizumab Approved, Investigational Phase 3 1803171-55-2
36
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
37
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 24892734 16212801 44176380
38
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 3 133585-56-5, 60-18-4, 556-02-5 1153 6057
39
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
40
Nabiximols Investigational Phase 2, Phase 3 56575-23-6
41
Cobalamin Experimental Phase 2, Phase 3 13408-78-1 6857388
42
Dexetimide Withdrawn Phase 3 21888-98-2 30843
43
Simendan Investigational Phase 3 131741-08-7
44
Ibudilast Investigational Phase 2, Phase 3 50847-11-5 3671
45
Trichostatin A Experimental Phase 3 58880-19-6 5562 444732
46 Antipsychotic Agents Phase 2, Phase 3
47 Antiemetics Phase 2, Phase 3
48 Immunoglobulins, Intravenous Phase 3
49 Immunoglobulin G Phase 3
50 gamma-Globulins Phase 3

Interventional clinical trials:

(show top 50) (show all 705)
# 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 Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS) Completed NCT00613899 Phase 4
4 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
5 EMERALD TRIAL Open-Label Extension Study (EMERALD OLE) Not yet recruiting NCT04997954 Phase 4 MediCabilis CBD oil
6 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Phase 2 Study of Cu(II)ATSM in Patients With Amyotrophic Lateral Sclerosis/Motor Neuron Disease Unknown status NCT04082832 Phase 2, Phase 3 Cu(II)ATSM;Placebos
7 Treatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS) in a Representative Iranian Population Unknown status NCT03272802 Phase 2, Phase 3 Edaravone;Riluzole
8 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
9 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
10 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
11 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)
12 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
13 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 Completed NCT02623699 Phase 3 BIIB067
14 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)
15 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
16 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
17 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
18 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
19 Randomized Crossover Design Trial of Vitamin E vs Placebo for Treatment of Cramps in Amyotrophic Lateral Sclerosis. Completed NCT00372879 Phase 3
20 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
21 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
22 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 Completed NCT03280056 Phase 3
23 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);Placebo
24 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
25 Repetitive Transcranial Magnetic Stimulation in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
26 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
27 A Randomized, Double-Blind, Placebo-Controlled Sequential Clinical Trial of Sodium Valproate in ALS Completed NCT00136110 Phase 3 Sodium Valproate
28 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
29 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
30 Phase 2-3 - Memantine for Disability in Amyotrophic Lateral Sclerosis Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;Placebo
31 Clinical Trial Ceftriaxone in Subjects With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00349622 Phase 3 ceftriaxone
32 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
33 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
34 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
35 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)
36 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS: Open-Label Extension for Patients Completing Study 3119002 Completed NCT03948178 Phase 3 Levosimendan
37 An Open-label Safety Extension Study of TRO19622 in Amyotrophic Lateral Sclerosis (ALS) Patients Treated With Riluzole Completed NCT01285583 Phase 2, Phase 3 TRO19622
38 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
39 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
40 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
41 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
42 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
43 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS Completed NCT03505021 Phase 3 Levosimendan;Placebo for levosimendan
44 A Phase 3, Randomised, Placebo-Controlled Trial of Arimoclomol in Amyotropic Lateral Sclerosis Completed NCT03491462 Phase 3 Arimoclomol;Placebo oral capsule
45 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
46 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
47 A Phase 1-3 Study to Evaluate the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION363 in Amyotrophic Lateral Sclerosis Patients With Fused in Sarcoma Mutations (FUS-ALS) Recruiting NCT04768972 Phase 3 ION363;Placebo
48 HEALEY ALS Platform Trial Recruiting NCT04297683 Phase 2, Phase 3 Zilucoplan;Verdiperstat;CNM-Au8;Pridopidine;SLS-005 Trehalose
49 A Double-blind, Randomized, Multicenter, Placebo-Controlled, Parallel, Phase III Clinical Trial to Evaluate the Efficacy and Safety of Lenzumestrocel(Neuronata-R® Inj.) in Patients With Amyotrophic Lateral Sclerosis Recruiting NCT04745299 Phase 3 Riluzole;Placebo Comparator
50 Randomised Double-Blind Placebo-Controlled Phase 3 Trial of Triumeq in Amyotrophic Lateral Sclerosis Recruiting NCT05193994 Phase 3 Dolutegravir, Abacavir and Lamivudine;Placebo

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 28

Anatomical Context for Motor Neuron Disease

Organs/tissues related to Motor Neuron Disease:

FMA: Motor Neurons
MalaCards : Spinal Cord, Bone Marrow, Brain, Skeletal Muscle, Bone, Tongue, 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 5834)
# Title Authors PMID Year
1
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 62 5
28089114 2017
2
Transgenic rat model of neurodegeneration caused by mutation in the TDP gene. 53 62
20361056 2010
3
Induction of amyloid fibrils by the C-terminal fragments of TDP-43 in amyotrophic lateral sclerosis. 53 62
20055380 2010
4
Structural discovery of small molecule binding sites in Cu-Zn human superoxide dismutase familial amyotrophic lateral sclerosis mutants provides insights for lead optimization. 53 62
20067275 2010
5
The heritability and genetics of frontotemporal lobar degeneration. 53 62
19884572 2009
6
Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis. 53 62
19596823 2009
7
Progranulin is expressed within motor neurons and promotes neuronal cell survival. 53 62
19860916 2009
8
A positive modifier of spinal muscular atrophy in the SMN2 gene. 53 62
19716110 2009
9
Cytoplasmic inclusions of TDP-43 in neurodegenerative diseases: a potential role for caspases. 53 62
19554515 2009
10
Human neural stem cell grafts in the spinal cord of SOD1 transgenic rats: differentiation and structural integration into the segmental motor circuitry. 53 62
19326469 2009
11
Ciliary neurotrophic factor fused to a protein transduction domain retains full neuroprotective activity in the absence of cytokine-like side effects. 53 62
19457136 2009
12
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy. 53 62
19228773 2009
13
Histone deacetylase inhibition activity and molecular docking of (e )-resveratrol: its therapeutic potential in spinal muscular atrophy. 53 62
19207472 2009
14
Neuropathology and therapeutic intervention in spinal and bulbar muscular atrophy. 53 62
19399234 2009
15
Increase in presynaptic territory of C-terminals on lumbar motoneurons of G93A SOD1 mice during disease progression. 53 62
19187267 2009
16
Modulation of mutant superoxide dismutase 1 aggregation by co-expression of wild-type enzyme. 53 62
19077113 2009
17
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). 53 62
18810511 2009
18
Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. 53 62
19259967 2009
19
Expression of amyotrophic lateral sclerosis-linked SOD1 mutant increases the neurotoxic potential of microglia via TLR2. 53 62
19091752 2009
20
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 53 62
18790819 2009
21
Neuropathological spectrum of frontal lobe dementias. 53 62
19182473 2009
22
Expression of collagen XVII and ubiquitin-binding protein p62 in motor neuron disease. 53 62
18992722 2009
23
Type-dependent oxidative damage in frontotemporal lobar degeneration: cortical astrocytes are targets of oxidative damage. 53 62
19018247 2008
24
Fine structural analysis of the neuronal inclusions of frontotemporal lobar degeneration with TDP-43 proteinopathy. 53 62
18974920 2008
25
The contribution of different androgen receptor domains to receptor dimerization and signaling. 53 62
18617596 2008
26
Regulation of dynactin through the differential expression of p150Glued isoforms. 53 62
18812314 2008
27
[Frontotemporal lobar degeneration: a descriptive study of 42 patients]. 53 62
18802798 2008
28
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. 53 62
18584184 2008
29
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. 53 62
18755042 2008
30
Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. 53 62
18585921 2008
31
GDNF fusion protein for targeted-drug delivery across the human blood-brain barrier. 53 62
18080333 2008
32
The effect of hydroxyurea in spinal muscular atrophy cells and patients. 53 62
18166199 2008
33
Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS. 53 62
18282652 2008
34
A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. 53 62
17997416 2008
35
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 53 62
18183624 2008
36
TDP-43 A315T mutation in familial motor neuron disease. 53 62
18288693 2008
37
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry. 53 62
18379439 2008
38
TDP-43 immunoreactivity in anoxic, ischemic and neoplastic lesions of the central nervous system. 53 62
18087705 2008
39
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. 53 62
18192287 2008
40
Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. 53 62
17854832 2008
41
Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. 53 62
17713769 2008
42
Severe subcortical TDP-43 pathology in sporadic frontotemporal lobar degeneration with motor neuron disease. 53 62
18004574 2008
43
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. 53 62
17850955 2007
44
[Pathogenesis and therapeutic perspectives for amyotrophic lateral sclerosis (ALS)]. 53 62
18210800 2007
45
[Revisit to Kii ALS--the innovated concept of ALS-Parkinsonism-dementia complex, clinicopathological features, epidemiology and etiology]. 53 62
17969346 2007
46
Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases. 53 62
17653732 2007
47
TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease. 53 62
17492294 2007
48
Common molecular signature in SOD1 for both sporadic and familial amyotrophic lateral sclerosis. 53 62
17636119 2007
49
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. 53 62
17591968 2007
50
[Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress]. 53 62
17633104 2007

Variations for Motor Neuron Disease

ClinVar genetic disease variations for Motor Neuron Disease:

5 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBK1 NM_013254.4(TBK1):c.1432del (p.Thr478fs) DEL Other
266066 rs1131690783 GRCh37: 12:64882353-64882353
GRCh38: 12:64488573-64488573
2 TBK1 NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter) SNV Other
266072 rs142030898 GRCh37: 12:64879787-64879787
GRCh38: 12:64486007-64486007
3 TBK1 NM_013254.4(TBK1):c.2115_2127del (p.Glu706fs) DEL Other
266067 rs1131690784 GRCh37: 12:64891795-64891807
GRCh38: 12:64498015-64498027
4 NEK1 NM_001199397.3(NEK1):c.1948del (p.Gln650fs) DEL Other
266042 rs1131690774 GRCh37: 4:170428247-170428247
GRCh38: 4:169507096-169507096
5 NEK1 NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter) SNV Other
266058 rs202115635 GRCh37: 4:170509870-170509870
GRCh38: 4:169588719-169588719
6 NEK1 NM_001199397.3(NEK1):c.214+1G>A SNV Other
266055 rs1049502301 GRCh37: 4:170523158-170523158
GRCh38: 4:169602007-169602007
7 SOD1 NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) SNV Pathogenic
197145 rs121912441 GRCh37: 21:33039672-33039672
GRCh38: 21:31667359-31667359
8 TARDBP NM_007375.4(TARDBP):c.1043G>T (p.Gly348Val) SNV Pathogenic
266064 rs1131690782 GRCh37: 1:11082509-11082509
GRCh38: 1:11022452-11022452
9 SOD1 NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) SNV Pathogenic
14784 rs121912437 GRCh37: 21:33039611-33039611
GRCh38: 21:31667298-31667298
10 TARDBP NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) SNV Pathogenic
21483 rs80356719 GRCh37: 1:11082325-11082325
GRCh38: 1:11022268-11022268
11 OPTN NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) SNV Pathogenic
266060 rs142812715 GRCh37: 10:13166053-13166053
GRCh38: 10:13124053-13124053
12 SOD1 NM_000454.5(SOD1):c.112G>A (p.Gly38Arg) SNV Pathogenic
14752 rs121912431 GRCh37: 21:33036142-33036142
GRCh38: 21:31663829-31663829
13 SOD1 NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) SNV Pathogenic
14761 rs121912439 GRCh37: 21:33039633-33039633
GRCh38: 21:31667320-31667320
14 NEK1 NM_001199397.3(NEK1):c.386T>G (p.Ile129Ser) SNV Likely Pathogenic
266043 rs1131690775 GRCh37: 4:170511887-170511887
GRCh38: 4:169590736-169590736
15 LOC108903148, OPTN NM_001008212.2(OPTN):c.280A>C (p.Lys94Gln) SNV Likely Pathogenic
266059 rs895824243 GRCh37: 10:13152387-13152387
GRCh38: 10:13110387-13110387
16 OPTN NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg) SNV Likely Pathogenic
266062 rs747481280 GRCh37: 10:13174068-13174068
GRCh38: 10:13132068-13132068
17 TBK1 NM_013254.4(TBK1):c.452C>T (p.Ser151Phe) SNV Likely Pathogenic
266068 rs55824172 GRCh37: 12:64860774-64860774
GRCh38: 12:64466994-64466994
18 NEK1 NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile) SNV Likely Pathogenic
266048 rs776098853 GRCh37: 4:170429443-170429443
GRCh38: 4:169508292-169508292
19 NEK1 NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu) SNV Likely Pathogenic
266054 rs377607698 GRCh37: 4:170345786-170345786
GRCh38: 4:169424635-169424635
20 MPZ NM_000530.8(MPZ):c.130T>C (p.Ser44Pro) SNV Likely Pathogenic
1328480 GRCh37: 1:161277152-161277152
GRCh38: 1:161307362-161307362
21 NEK1 NM_001199397.3(NEK1):c.695G>A (p.Arg232His) SNV Likely Pathogenic
266044 rs772747361 GRCh37: 4:170506612-170506612
GRCh38: 4:169585461-169585461
22 SOD1 NM_000454.5(SOD1):c.437C>A (p.Ala146Asp) SNV Likely Pathogenic
266063 rs1131690781 GRCh37: 21:33040863-33040863
GRCh38: 21:31668550-31668550
23 TBK1 NM_013254.4(TBK1):c.829C>G (p.Leu277Val) SNV Likely Pathogenic
266069 rs905184241 GRCh37: 12:64875638-64875638
GRCh38: 12:64481858-64481858
24 NEK1 NM_001199397.3(NEK1):c.782G>A (p.Arg261His) SNV Likely Pathogenic
199125 rs200161705 GRCh37: 4:170506525-170506525
GRCh38: 4:169585374-169585374
25 NEK1 NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) SNV Likely Pathogenic
266051 rs34324114 GRCh37: 4:170398474-170398474
GRCh38: 4:169477323-169477323
26 OPTN NM_001008212.2(OPTN):c.1337A>G (p.Glu446Gly) SNV Uncertain Significance
266061 rs1131690780 GRCh37: 10:13169839-13169839
GRCh38: 10:13127839-13127839
27 NEK1 NM_001199397.3(NEK1):c.827G>T (p.Cys276Phe) SNV Uncertain Significance
266045 rs1131690776 GRCh37: 4:170502034-170502034
GRCh38: 4:169580883-169580883
28 GARS1 NM_002047.4(GARS1):c.123_124insG (p.Pro42fs) INSERT Uncertain Significance
549699 rs1554336520 GRCh37: 7:30634660-30634661
GRCh38: 7:30595044-30595045
29 TARDBP NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter) SNV Uncertain Significance
266065 rs147795017 GRCh37: 1:11082588-11082588
GRCh38: 1:11022531-11022531
30 PARK7 NM_007262.5(PARK7):c.377A>G (p.His126Arg) SNV Uncertain Significance
1334461 GRCh37: 1:8037766-8037766
GRCh38: 1:7977706-7977706
31 NEK1 NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) SNV Uncertain Significance
266046 rs189186475 GRCh37: 4:170483347-170483347
GRCh38: 4:169562196-169562196
32 NEK1 NM_001199397.3(NEK1):c.1911_1912insTATA (p.Ala638fs) INSERT Uncertain Significance
266057 rs1131690779 GRCh37: 4:170428865-170428866
GRCh38: 4:169507714-169507715
33 TBK1 NM_013254.4(TBK1):c.1135A>G (p.Ile379Val) SNV Uncertain Significance
266070 rs748864346 GRCh37: 12:64878225-64878225
GRCh38: 12:64484445-64484445
34 TBK1 NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile) SNV Uncertain Significance
266071 rs779715292 GRCh37: 12:64883886-64883886
GRCh38: 12:64490106-64490106
35 NEK1 NM_001199397.3(NEK1):c.1750-5T>C SNV Uncertain Significance
266056 rs199522035 GRCh37: 4:170429487-170429487
GRCh38: 4:169508336-169508336
36 NEK1 NM_001199397.3(NEK1):c.2306A>G (p.His769Arg) SNV Likely Benign
266050 rs375173827 GRCh37: 4:170398403-170398403
GRCh38: 4:169477252-169477252
37 NEK1 NM_001199397.3(NEK1):c.2392C>G (p.Leu798Val) SNV Likely Benign
266053 rs1131690778 GRCh37: 4:170398317-170398317
GRCh38: 4:169477166-169477166
38 NEK1 NM_001199397.3(NEK1):c.2368G>A (p.Ala790Thr) SNV Likely Benign
266052 rs1131690777 GRCh37: 4:170398341-170398341
GRCh38: 4:169477190-169477190
39 NEK1 NM_001199397.3(NEK1):c.2137G>A (p.Val713Met) SNV Likely Benign
266049 rs199827465 GRCh37: 4:170400556-170400556
GRCh38: 4:169479405-169479405
40 NEK1 NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu) SNV Likely Benign
266047 rs372585344 GRCh37: 4:170482986-170482986
GRCh38: 4:169561835-169561835

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 10.69 SOD1 NEFH ALS2
3 10.16 SOD2 SOD1

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 neuron projection GO:0043005 9.65 SOD1 SMN2 SMN1 MAPT DCTN1 ALS2
2 SMN complex GO:0032797 9.56 SMN2 SMN1
3 neurofibrillary tangle GO:0097418 9.46 NEFH MAPT
4 axon GO:0030424 9.44 SMN2 SMN1 NEFH MAPT DCTN1 CNTF

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.76 SOD2 SOD1 GRN CNTF
2 hydrogen peroxide biosynthetic process GO:0050665 9.67 SOD2 SOD1
3 neurofilament cytoskeleton organization GO:0060052 9.62 SOD1 NEFH
4 positive regulation of xenophagy GO:1904417 9.56 TBK1 OPTN
5 response to superoxide GO:0000303 9.26 SOD2 SOD1
6 axonal transport GO:0098930 8.8 MAPT DCTN1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.66 VCP TBK1 TARDBP SQSTM1 SOD2 SOD1
2 protein-macromolecule adaptor activity GO:0030674 9.5 SQSTM1 OPTN NEFH MAPT
3 superoxide dismutase activity GO:0004784 9.46 SOD2 SOD1

Sources for Motor Neuron Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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