MCID: MTR014
MIFTS: 66

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 75 59 29 55 6 15 38 17 72 33
Anterior Horn Cell Disease 59
Motor Neuron Diseases 54

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:231
ICD9CM 35 335.2
MeSH 44 D016472
SNOMED-CT 68 37340000
ICD10 33 G12.2 G12.20
MESH via Orphanet 45 D016472
ICD10 via Orphanet 34 G12.2
UMLS via Orphanet 73 C0085084 C0154681
Orphanet 59 ORPHA98503
UMLS 72 C0085084

Summaries for Motor Neuron Disease

NINDS : 54 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 primary lateral sclerosis, adult, 1 and progressive muscular atrophy, 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 Olanzapine have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube and Neural Tube, and related phenotypes are no effect and behavior/neurological

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

Wikipedia : 75 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 517)
# Related Disease Score Top Affiliating Genes
1 primary lateral sclerosis, adult, 1 34.1 SOD1 MAPT ALS2
2 progressive muscular atrophy 33.9 TARDBP SMN2 SMN1
3 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 33.8 VCP TBK1 TARDBP SQSTM1 MAPT GRN
4 lateral sclerosis 33.6 VCP TBK1 TARDBP SQSTM1 SOD1 OPTN
5 anterior horn cell disease 33.5 TARDBP SMN2 SMN1
6 frontotemporal dementia 33.4 VCP TBK1 TARDBP SQSTM1 SOD1 NEFH
7 spinal muscular atrophy 33.3 SMN2 SMN1 NAIP CHCHD10 AR
8 pick disease of brain 33.1 TARDBP SQSTM1 MAPT GRN
9 amyotrophic lateral sclerosis 1 32.4 VCP TBK1 TARDBP SQSTM1 SOD2 SOD1
10 muscular atrophy 32.2 SMN2 SMN1 NAIP CHCHD10 AR
11 amyotrophic lateral sclerosis 2, juvenile 32.1 SOD1 ALS2
12 neuromuscular disease 31.8 SMN2 SMN1 NAIP DCTN1
13 spinal muscular atrophy, distal, autosomal recessive, 1 31.7 SMN2 SMN1
14 dementia 31.5 VCP TBK1 TARDBP SQSTM1 MAPT GRN
15 semantic dementia 31.4 TARDBP MAPT GRN
16 behavioral variant of frontotemporal dementia 31.2 VCP SQSTM1 MAPT GRN
17 nominal aphasia 31.2 TARDBP MAPT GRN
18 spinal muscular atrophy, type i 31.2 SMN2 SMN1 NAIP
19 brown-vialetto-van laere syndrome 31.2 TARDBP SOD1 NAIP ALS2
20 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 31.1 TARDBP OPTN ALS2
21 progressive non-fluent aphasia 31.0 VCP MAPT GRN
22 proximal spinal muscular atrophy 31.0 SMN2 SMN1 NAIP
23 charcot-marie-tooth disease 31.0 VCP NEFH DCTN1 CNTF BSCL2
24 agraphia 30.9 TARDBP MAPT GRN
25 perry syndrome 30.9 TARDBP GRN DCTN1
26 amyotrophic lateral sclerosis 7 30.9 TARDBP OPTN ALS2
27 amyotrophic lateral sclerosis 16, juvenile 30.9 SOD1 ALS2
28 paget's disease of bone 30.8 VCP SQSTM1 OPTN
29 phonagnosia 30.8 TARDBP GRN
30 associative agnosia 30.8 TARDBP GRN
31 inclusion body myositis 30.8 VCP TARDBP SQSTM1 MAPT
32 ideomotor apraxia 30.8 MAPT GRN
33 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 30.8 MAPT GRN
34 inclusion body myopathy with paget disease of bone and frontotemporal dementia 30.7 VCP TARDBP
35 congenital arthrogryposis with anterior horn cell disease 13.0
36 madras motor neuron disease 12.8
37 motor neuron disease with dementia and ophthalmoplegia 12.5
38 genetic motor neuron disease 12.4
39 acquired motor neuron disease 12.4
40 spinal muscular atrophy, distal, autosomal recessive, 4 12.0
41 neuronopathy, distal hereditary motor, type viib 11.9
42 spinal and bulbar muscular atrophy, x-linked 1 11.8
43 juvenile amyotrophic lateral sclerosis 11.7
44 pontocerebellar hypoplasia, type 1a 11.6
45 amyotrophy, monomelic 11.6
46 pnpla6-related disorders 11.5
47 pontocerebellar hypoplasia type 1 11.5
48 progressive bulbar palsy 11.5
49 hereditary spastic paraplegia 11.5
50 supranuclear palsy, progressive, 1 11.4

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ALS2 AR BSCL2 CHCHD10 CNTF DCTN1

MGI Mouse Phenotypes related to Motor Neuron Disease:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.4 ALS2 AR BSCL2 CNTF DCTN1 GRN
2 cellular MP:0005384 10.37 AR BSCL2 CHCHD10 CNTF DCTN1 GRN
3 homeostasis/metabolism MP:0005376 10.31 ALS2 AR BSCL2 CNTF DCTN1 GRN
4 growth/size/body region MP:0005378 10.26 ALS2 AR BSCL2 GRN MAPT SLC1A2
5 immune system MP:0005387 10.25 ALS2 AR BSCL2 CNTF DCTN1 GRN
6 hematopoietic system MP:0005397 10.23 AR BSCL2 CNTF DCTN1 GRN MAPT
7 cardiovascular system MP:0005385 10.16 AR BSCL2 CHCHD10 MAPT SMN2 SOD1
8 mortality/aging MP:0010768 10.13 ALS2 AR BSCL2 DCTN1 GRN MAPT
9 integument MP:0010771 10.02 AR BSCL2 MAPT SMN2 SOD1 SOD2
10 liver/biliary system MP:0005370 9.87 AR BSCL2 GRN SOD1 SOD2 SQSTM1
11 muscle MP:0005369 9.85 ALS2 AR CNTF DCTN1 MAPT SMN2
12 nervous system MP:0003631 9.8 ALS2 AR CNTF DCTN1 GRN MAPT
13 no phenotypic analysis MP:0003012 9.23 BSCL2 CNTF GRN MAPT OPTN SMN2

Drugs & Therapeutics for Motor Neuron Disease

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

(show top 50) (show all 331)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
2
Olanzapine Approved, Investigational Phase 2, Phase 3 132539-06-1 4585
3
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
4
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
5
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
6
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
7
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
8
Citalopram Approved Phase 3 59729-33-8 2771
9
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
10
Quinidine Approved, Investigational Phase 3 56-54-2 441074
11
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
12
Mecasermin Approved, Investigational Phase 3 68562-41-4
13
Zinc Approved, Investigational Phase 3 7440-66-6 32051
14
Methylcobalamin Approved, Experimental, Investigational Phase 3 13422-55-4
15
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
16
Sodium citrate Approved, Investigational Phase 3 68-04-2
17
Edaravone Approved, Investigational Phase 2, Phase 3 89-25-8 70335
18
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
19
Pramipexole Approved, Investigational Phase 3 104632-26-0 59868 119570
20
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
21
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
22
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
23
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
24
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
25
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
26
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
27
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
28
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
29 Nabiximols Investigational Phase 2, Phase 3 56575-23-6
30 Tocotrienol Investigational Phase 3 6829-55-6
31
Cobalamin Experimental Phase 3 13408-78-1 6857388
32
Taurochenodeoxycholic acid Experimental Phase 3 516-35-8 387316
33
Tauroursodeoxycholic acid Experimental, Investigational Phase 3 14605-22-2 12443252
34
Ibudilast Investigational Phase 2, Phase 3 50847-11-5 3671
35 Simendan Investigational Phase 3 131741-08-7
36 Serotonin Uptake Inhibitors Phase 2, Phase 3
37 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
38 Serotonin Agents Phase 2, Phase 3
39 Sodium Channel Blockers Phase 3
40 Diuretics, Potassium Sparing Phase 3
41 abobotulinumtoxinA Phase 2, Phase 3
42 Cholinergic Agents Phase 3
43 Botulinum Toxins Phase 2, Phase 3
44 Botulinum Toxins, Type A Phase 2, Phase 3
45 Anti-Bacterial Agents Phase 3
46 rimabotulinumtoxinB Phase 2, Phase 3
47 Immunoglobulins, Intravenous Phase 3
48 gamma-Globulins Phase 3
49 Rho(D) Immune Globulin Phase 3
50 Chlorpheniramine, phenylpropanolamine drug combination Phase 3

Interventional clinical trials:

(show top 50) (show all 519)
# 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 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
9 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
10 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
11 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
12 Phase 2-3 - Memantine for Disability in Amyotrophic Lateral Sclerosis Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;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 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
15 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)
16 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
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 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
19 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
20 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
21 An Open-label Safety Extension Study of TRO19622 in Amyotrophic Lateral Sclerosis (ALS) Patients Treated With Riluzole Completed NCT01285583 Phase 2, Phase 3 TRO19622
22 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
23 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
24 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)
25 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
26 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
27 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
28 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
29 Randomized Crossover Design Trial of Vitamin E vs Placebo for Treatment of Cramps in Amyotrophic Lateral Sclerosis. Completed NCT00372879 Phase 3
30 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
31 A Randomized, Double-Blind, Placebo-Controlled Sequential Clinical Trial of Sodium Valproate in ALS Completed NCT00136110 Phase 3 Sodium Valproate
32 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
33 A Double-Blind, Randomized, Placebo-Controlled, Multicenter Study to Assess the Safety and Efficacy and to Determine the Pharmacokinetics of Two Doses of AVP-923 (Dextromethorphan/Quinidine) in the Treatment of Pseudobulbar Affect (PBA) in Patients With Amyotrophic Lateral Sclerosis (ALS) and Multiple Sclerosis (MS) Completed NCT00573443 Phase 3 dextromethorphan hydrobromide 20 mg and quinidine sulfate 10 mg;dextromethorphan hydrobromide 30 mg and quinidine sulfate 10 mg;Placebo
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 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 Recruiting NCT03836716 Phase 3 Arimoclomol
37 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
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 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
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 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS Recruiting NCT03505021 Phase 3 Levosimendan;Placebo for levosimendan
43 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 Recruiting NCT03280056 Phase 3
44 A Phase 3, Randomised, Placebo-Controlled Trial of Arimoclomol in Amyotropic Lateral Sclerosis Active, not recruiting NCT03491462 Phase 3 Arimoclomol;Placebo oral capsule
45 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
46 A Multicenter, Double Blind, Placebo Controlled Study to Assess the Efficacy and Safety of H.P. Acthar® Gel in the Treatment of Subjects With Amyotrophic Lateral Sclerosis Active, not recruiting NCT03068754 Phase 2, Phase 3 Acthar;Placebo
47 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
48 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)
49 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS: Open-Label Extension for Patients Completing Study 3119002 Not yet recruiting NCT03948178 Phase 3 Levosimendan
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

MalaCards organs/tissues related to Motor Neuron Disease:

41
Brain, Spinal Cord, Bone, Testes, Bone Marrow, Skeletal Muscle, Cortex

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

19
Motor Neurones
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 4803)
# Title Authors PMID Year
1
Transgenic rat model of neurodegeneration caused by mutation in the TDP gene. 9 38
20361056 2010
2
Induction of amyloid fibrils by the C-terminal fragments of TDP-43 in amyotrophic lateral sclerosis. 9 38
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. 9 38
20067275 2010
4
The heritability and genetics of frontotemporal lobar degeneration. 9 38
19884572 2009
5
Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis. 9 38
19596823 2009
6
Progranulin is expressed within motor neurons and promotes neuronal cell survival. 9 38
19860916 2009
7
A positive modifier of spinal muscular atrophy in the SMN2 gene. 9 38
19716110 2009
8
Cytoplasmic inclusions of TDP-43 in neurodegenerative diseases: a potential role for caspases. 9 38
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. 9 38
19326469 2009
10
Ciliary neurotrophic factor fused to a protein transduction domain retains full neuroprotective activity in the absence of cytokine-like side effects. 9 38
19457136 2009
11
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy. 9 38
19228773 2009
12
Histone deacetylase inhibition activity and molecular docking of (e )-resveratrol: its therapeutic potential in spinal muscular atrophy. 9 38
19207472 2009
13
Neuropathology and therapeutic intervention in spinal and bulbar muscular atrophy. 9 38
19399234 2009
14
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). 9 38
18810511 2009
15
Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. 9 38
19259967 2009
16
Expression of amyotrophic lateral sclerosis-linked SOD1 mutant increases the neurotoxic potential of microglia via TLR2. 9 38
19091752 2009
17
Modulation of mutant superoxide dismutase 1 aggregation by co-expression of wild-type enzyme. 9 38
19077113 2009
18
Increase in presynaptic territory of C-terminals on lumbar motoneurons of G93A SOD1 mice during disease progression. 9 38
19187267 2009
19
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 9 38
18790819 2009
20
Neuropathological spectrum of frontal lobe dementias. 9 38
19182473 2009
21
Expression of collagen XVII and ubiquitin-binding protein p62 in motor neuron disease. 9 38
18992722 2009
22
Type-dependent oxidative damage in frontotemporal lobar degeneration: cortical astrocytes are targets of oxidative damage. 9 38
19018247 2008
23
Fine structural analysis of the neuronal inclusions of frontotemporal lobar degeneration with TDP-43 proteinopathy. 9 38
18974920 2008
24
Regulation of dynactin through the differential expression of p150Glued isoforms. 9 38
18812314 2008
25
The contribution of different androgen receptor domains to receptor dimerization and signaling. 9 38
18617596 2008
26
[Frontotemporal lobar degeneration: a descriptive study of 42 patients]. 9 38
18802798 2008
27
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. 9 38
18755042 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. 9 38
18584184 2008
29
Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. 9 38
18585921 2008
30
GDNF fusion protein for targeted-drug delivery across the human blood-brain barrier. 9 38
18080333 2008
31
Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS. 9 38
18282652 2008
32
The effect of hydroxyurea in spinal muscular atrophy cells and patients. 9 38
18166199 2008
33
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 9 38
18183624 2008
34
TDP-43 A315T mutation in familial motor neuron disease. 9 38
18288693 2008
35
A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. 9 38
17997416 2008
36
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry. 9 38
18379439 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. 9 38
18192287 2008
38
TDP-43 immunoreactivity in anoxic, ischemic and neoplastic lesions of the central nervous system. 9 38
18087705 2008
39
Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. 9 38
17854832 2008
40
Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. 9 38
17713769 2008
41
Severe subcortical TDP-43 pathology in sporadic frontotemporal lobar degeneration with motor neuron disease. 9 38
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. 9 38
17850955 2007
43
[Pathogenesis and therapeutic perspectives for amyotrophic lateral sclerosis (ALS)]. 9 38
18210800 2007
44
[Revisit to Kii ALS--the innovated concept of ALS-Parkinsonism-dementia complex, clinicopathological features, epidemiology and etiology]. 9 38
17969346 2007
45
Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases. 9 38
17653732 2007
46
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. 9 38
17591968 2007
47
Common molecular signature in SOD1 for both sporadic and familial amyotrophic lateral sclerosis. 9 38
17636119 2007
48
TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease. 9 38
17492294 2007
49
The Rab5 activator ALS2/alsin acts as a novel Rac1 effector through Rac1-activated endocytosis. 9 38
17409386 2007
50
[Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress]. 9 38
17633104 2007

Variations for Motor Neuron Disease

ClinVar genetic disease variations for Motor Neuron Disease:

6 (show all 38)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NEK1 NM_001199397.2(NEK1): c.1948del (p.Gln650fs) deletion other rs1131690774 4:170428247-170428247 4:169507096-169507096
2 NEK1 NM_001199397.2(NEK1): c.481C> T (p.Arg161Ter) single nucleotide variant other rs202115635 4:170509870-170509870 4:169588719-169588719
3 NEK1 NM_001199397.2(NEK1): c.214+1G> A single nucleotide variant other rs1049502301 4:170523158-170523158 4:169602007-169602007
4 TBK1 NM_013254.4(TBK1): c.1432del (p.Thr478fs) deletion other rs1131690783 12:64882353-64882353 12:64488573-64488573
5 TBK1 NM_013254.4(TBK1): c.2115_2127del (p.Glu706fs) deletion other rs1131690784 12:64891795-64891807 12:64498015-64498027
6 TBK1 NM_013254.4(TBK1): c.1330C> T (p.Arg444Ter) single nucleotide variant Pathogenic rs142030898 12:64879787-64879787 12:64486007-64486007
7 SOD1 NM_000454.4(SOD1): c.112G> A (p.Gly38Arg) single nucleotide variant Pathogenic rs121912431 21:33036142-33036142 21:31663829-31663829
8 SOD1 NM_000454.4(SOD1): c.302A> G (p.Glu101Gly) single nucleotide variant Pathogenic rs121912439 21:33039633-33039633 21:31667320-31667320
9 SOD1 NM_000454.4(SOD1): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs121912437 21:33039611-33039611 21:31667298-31667298
10 SOD1 NM_000454.4(SOD1): c.341T> C (p.Ile114Thr) single nucleotide variant Pathogenic rs121912441 21:33039672-33039672 21:31667359-31667359
11 TARDBP NM_007375.3(TARDBP): c.1043G> T (p.Gly348Val) single nucleotide variant Pathogenic rs1131690782 1:11082509-11082509 1:11022452-11022452
12 NEK1 NM_001199397.2(NEK1): c.3140C> T (p.Ser1047Leu) single nucleotide variant Likely pathogenic rs377607698 4:170345786-170345786 4:169424635-169424635
13 OPTN NM_001008211.1(OPTN): c.280A> C (p.Lys94Gln) single nucleotide variant Likely pathogenic rs895824243 10:13152387-13152387 10:13110387-13110387
14 NEK1 NM_001199397.2(NEK1): c.386T> G (p.Ile129Ser) single nucleotide variant Likely pathogenic rs1131690775 4:170511887-170511887 4:169590736-169590736
15 OPTN NM_001008211.1(OPTN): c.1403T> G (p.Met468Arg) single nucleotide variant Likely pathogenic rs747481280 10:13174068-13174068 10:13132068-13132068
16 TBK1 NM_013254.4(TBK1): c.452C> T (p.Ser151Phe) single nucleotide variant Likely pathogenic rs55824172 12:64860774-64860774 12:64466994-64466994
17 SOD1 NM_000454.4(SOD1): c.437C> A (p.Ala146Asp) single nucleotide variant Likely pathogenic rs1131690781 21:33040863-33040863 21:31668550-31668550
18 TBK1 NM_013254.4(TBK1): c.829C> G (p.Leu277Val) single nucleotide variant Conflicting interpretations of pathogenicity rs905184241 12:64875638-64875638 12:64481858-64481858
19 OPTN NM_001008211.1(OPTN): c.941A> T (p.Gln314Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142812715 10:13166053-13166053 10:13124053-13124053
20 NEK1 NM_001199397.2(NEK1): c.1137T> A (p.Asp379Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs372585344 4:170482986-170482986 4:169561835-169561835
21 NEK1 NM_001199397.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 4:170483347-170483347 4:169562196-169562196
22 NEK1 NM_001199397.2(NEK1): c.1789T> A (p.Phe597Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs776098853 4:170429443-170429443 4:169508292-169508292
23 NEK1 NM_001199397.2(NEK1): c.695G> A (p.Arg232His) single nucleotide variant Conflicting interpretations of pathogenicity rs772747361 4:170506612-170506612 4:169585461-169585461
24 NEK1 NM_001199397.2(NEK1): c.2235T> G (p.Asn745Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34324114 4:170398474-170398474 4:169477323-169477323
25 NEK1 NM_001199397.2(NEK1): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs200161705 4:170506525-170506525 4:169585374-169585374
26 TARDBP NM_007375.3(TARDBP): c.859G> A (p.Gly287Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs80356719 1:11082325-11082325 1:11022268-11022268
27 TARDBP NM_007375.3(TARDBP): c.1122T> G (p.Tyr374Ter) single nucleotide variant Uncertain significance rs147795017 1:11082588-11082588 1:11022531-11022531
28 NEK1 NM_001199397.2(NEK1): c.1911_1912insTATA (p.Ala638fs) insertion Uncertain significance rs1131690779 4:170428865-170428866 4:169507714-169507715
29 GARS1 NM_002047.4(GARS1): c.123_124insG (p.Pro42fs) insertion Uncertain significance rs1554336520 7:30634660-30634661 7:30595044-30595045
30 NEK1 NM_001199397.2(NEK1): c.1750-5T> C single nucleotide variant Uncertain significance rs199522035 4:170429487-170429487 4:169508336-169508336
31 OPTN NM_001008211.1(OPTN): c.1337A> G (p.Glu446Gly) single nucleotide variant Uncertain significance rs1131690780 10:13169839-13169839 10:13127839-13127839
32 NEK1 NM_001199397.2(NEK1): c.827G> T (p.Cys276Phe) single nucleotide variant Uncertain significance rs1131690776 4:170502034-170502034 4:169580883-169580883
33 TBK1 NM_013254.4(TBK1): c.1135A> G (p.Ile379Val) single nucleotide variant Uncertain significance rs748864346 12:64878225-64878225 12:64484445-64484445
34 TBK1 NM_013254.4(TBK1): c.1508C> T (p.Thr503Ile) single nucleotide variant Uncertain significance rs779715292 12:64883886-64883886 12:64490106-64490106
35 NEK1 NM_001199397.2(NEK1): c.2392C> G (p.Leu798Val) single nucleotide variant Likely benign rs1131690778 4:170398317-170398317 4:169477166-169477166
36 NEK1 NM_001199397.2(NEK1): c.2368G> A (p.Ala790Thr) single nucleotide variant Likely benign rs1131690777 4:170398341-170398341 4:169477190-169477190
37 NEK1 NM_001199397.2(NEK1): c.2306A> G (p.His769Arg) single nucleotide variant Likely benign rs375173827 4:170398403-170398403 4:169477252-169477252
38 NEK1 NM_001199397.2(NEK1): c.2137G> A (p.Val713Met) single nucleotide variant Benign/Likely benign 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 11.7 TARDBP SOD1 SLC1A2 OPTN NEFH MAPT
2
Show member pathways
11.31 SOD1 SLC1A2 NEFH ALS2
3 11.14 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 cytoplasmic ribonucleoprotein granule GO:0036464 9.5 SMN2 SMN1 MAPT
2 SMN-Sm protein complex GO:0034719 9.46 SMN2 SMN1
3 axolemma GO:0030673 9.43 SLC1A2 MAPT
4 neuron projection GO:0043005 9.43 SOD1 SMN2 SMN1 MAPT DCTN1 ALS2
5 SMN complex GO:0032797 9.4 SMN2 SMN1
6 Gemini of coiled bodies GO:0097504 9.37 SMN2 SMN1
7 neurofibrillary tangle GO:0097418 9.26 NEFH MAPT
8 axon GO:0030424 9.1 SLC1A2 NEFH MAPT DCTN1 CNTF ALS2
9 cytoplasm GO:0005737 10.03 VCP TBK1 TARDBP SQSTM1 SOD1 SMN2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 superoxide metabolic process GO:0006801 9.52 SOD2 SOD1
2 import into nucleus GO:0051170 9.51 SMN2 SMN1
3 positive regulation of superoxide anion generation GO:0032930 9.49 SOD1 MAPT
4 axon development GO:0061564 9.48 NEFH MAPT
5 removal of superoxide radicals GO:0019430 9.46 SOD2 SOD1
6 negative regulation of neuron apoptotic process GO:0043524 9.46 SOD2 SOD1 NAIP CNTF
7 DNA-templated transcription, termination GO:0006353 9.43 SMN2 SMN1
8 nervous system development GO:0007399 9.43 SMN2 SMN1 SLC1A2 NAIP DCTN1 CNTF
9 astrocyte activation GO:0048143 9.4 MAPT CNTF
10 neurofilament cytoskeleton organization GO:0060052 9.37 SOD1 NEFH
11 response to superoxide GO:0000303 9.32 SOD2 SOD1
12 positive regulation of xenophagy GO:1904417 9.26 TBK1 OPTN
13 axonal transport GO:0098930 8.62 MAPT DCTN1

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 9.91 VCP TBK1 TARDBP SQSTM1 SOD1 SMN2
2 protein binding, bridging GO:0030674 9.43 OPTN NEFH MAPT
3 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.32 SQSTM1 OPTN
4 identical protein binding GO:0042802 9.32 VCP TBK1 TARDBP SQSTM1 SOD2 SOD1
5 superoxide dismutase activity GO:0004784 9.16 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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