Aliases & Classifications for Motor Neuron Disease

MalaCards integrated aliases for Motor Neuron Disease:

Name: Motor Neuron Disease 38 12 76 55 6 15 73
Motor Neuron Diseases 54

Classifications:



External Ids:

Disease Ontology 12 DOID:231
ICD10 33 G12.2 G12.20
ICD9CM 35 335.2
MeSH 44 D016472
SNOMED-CT 68 37340000
UMLS 73 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 motor neuron diseases, is related to lateral sclerosis 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 TARDBP (TAR DNA Binding Protein), and among its related pathways/superpathways are Neuroscience and Cytoskeleton remodeling Neurofilaments. The drugs Riluzole and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube and 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 : 76 A motor neuron disease (MND) is a neurodegenerative disorder that selectively affects motor neurons, the... more...

Related Diseases for Motor Neuron Disease

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

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 lateral sclerosis 33.1 ALS2 CHCHD10 DCTN1 NEFH OPTN SOD1
2 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 33.0 CHCHD10 GRN MAPT SQSTM1 TARDBP TBK1
3 frontotemporal dementia 32.8 CHCHD10 GRN INA MAPT NEFH SOD1
4 progressive muscular atrophy 32.8 SMN1 SMN2 TARDBP
5 primary lateral sclerosis, adult, 1 32.7 ALS2 MAPT SOD1
6 amyotrophic lateral sclerosis 1 32.7 ALS2 CHCHD10 CNTF DCTN1 GRN INA
7 spinal muscular atrophy 32.5 AR CHCHD10 NAIP SMN1 SMN2
8 supranuclear palsy, progressive, 1 32.3 GRN MAPT TARDBP
9 pick disease of brain 32.2 GRN MAPT SQSTM1 TARDBP
10 anterior horn cell disease 32.1 SMN1 SMN2 TARDBP
11 dementia 31.2 CHCHD10 GRN MAPT SQSTM1 TARDBP TBK1
12 muscular atrophy 30.9 AR CHCHD10 NAIP SMN1 SMN2
13 spinal muscular atrophy, distal, autosomal recessive, 1 30.9 SMN1 SMN2
14 amyotrophic lateral sclerosis 2, juvenile 30.6 ALS2 SOD1
15 neuromuscular disease 30.5 DCTN1 NAIP SMN1 SMN2
16 spinal muscular atrophy, type i 30.3 NAIP SMN1 SMN2
17 proximal spinal muscular atrophy 30.3 NAIP SMN1 SMN2
18 semantic dementia 30.3 GRN MAPT TARDBP
19 brown-vialetto-van laere syndrome 30.3 ALS2 NAIP SOD1 TARDBP
20 paget's disease of bone 30.2 OPTN SQSTM1 VCP
21 charcot-marie-tooth disease 30.1 BSCL2 CNTF DCTN1 NEFH VCP
22 alzheimer disease 30.0 GRN MAPT SLC1A2 SOD1 SQSTM1 TARDBP
23 inclusion body myositis 30.0 MAPT SQSTM1 TARDBP VCP
24 madras motor neuron disease 12.7
25 motor neuron disease with dementia and ophthalmoplegia 12.2
26 neuronopathy, distal hereditary motor, type viib 11.7
27 spinal muscular atrophy, distal, autosomal recessive, 4 11.7
28 spinal and bulbar muscular atrophy, x-linked 1 11.5
29 juvenile amyotrophic lateral sclerosis 11.5
30 o'sullivan-mcleod syndrome 11.4
31 hereditary spastic paraplegia 11.3
32 fazio-londe disease 11.3
33 spastic paraplegia 20, autosomal recessive 11.3
34 progressive bulbar palsy 11.3
35 amyotrophy, monomelic 11.1
36 spastic paraplegia 17, autosomal dominant 10.9
37 spastic paraplegia 2, x-linked 10.9
38 spastic paraplegia 39, autosomal recessive 10.9
39 spinal muscular atrophy, jokela type 10.9
40 pontocerebellar hypoplasia, type 1c 10.9
41 patulous eustachian tube 10.9
42 distal hereditary motor neuropathies 10.9
43 frontotemporal dementia with parkinsonism-17 10.6
44 neuropathy 10.5
45 amyotrophic lateral sclerosis 4, juvenile 10.3
46 amyotrophic lateral sclerosis 11 10.3 ALS2 OPTN TARDBP
47 amyotrophic lateral sclerosis 7 10.3 ALS2 OPTN TARDBP
48 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.3 ALS2 OPTN TARDBP
49 amyotrophic lateral sclerosis 16, juvenile 10.3 ALS2 SOD1
50 phonagnosia 10.3 GRN TARDBP

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 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.17 DCTN1
2 Decreased viability GR00221-A-1 10.17 TBK1
3 Decreased viability GR00221-A-2 10.17 SOD1 TBK1
4 Decreased viability GR00221-A-3 10.17 SOD1
5 Decreased viability GR00221-A-4 10.17 SOD1
6 Decreased viability GR00231-A 10.17 SQSTM1
7 Decreased viability GR00240-S-1 10.17 SMN2
8 Decreased viability GR00301-A 10.17 TBK1
9 Decreased viability GR00342-S-1 10.17 TBK1
10 Decreased viability GR00342-S-2 10.17 TBK1
11 Decreased viability GR00381-A-1 10.17 SQSTM1 VCP
12 Decreased viability GR00402-S-2 10.17 ALS2 AR BSCL2 CHCHD10 CNTF DCTN1
13 no effect GR00402-S-1 9.62 ALS2 AR BSCL2 CHCHD10 CNTF DCTN1

MGI Mouse Phenotypes related to Motor Neuron Disease:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 ALS2 AR BSCL2 CNTF DCTN1 GRN
2 cellular MP:0005384 10.34 AR BSCL2 CHCHD10 CNTF DCTN1 GRN
3 homeostasis/metabolism MP:0005376 10.28 ALS2 AR BSCL2 CNTF DCTN1 GRN
4 growth/size/body region MP:0005378 10.22 ALS2 AR BSCL2 GRN MAPT SLC1A2
5 immune system MP:0005387 10.22 ALS2 AR BSCL2 CNTF DCTN1 GRN
6 hematopoietic system MP:0005397 10.2 AR BSCL2 CNTF DCTN1 GRN MAPT
7 mortality/aging MP:0010768 10.17 ALS2 AR BSCL2 DCTN1 GRN MAPT
8 nervous system MP:0003631 10 ALS2 AR CNTF DCTN1 GRN INA
9 integument MP:0010771 9.97 AR BSCL2 MAPT SMN2 SOD1 SQSTM1
10 muscle MP:0005369 9.91 ALS2 AR CNTF DCTN1 MAPT SMN2
11 no phenotypic analysis MP:0003012 9.56 BSCL2 CNTF GRN MAPT OPTN SMN2
12 skeleton MP:0005390 9.23 AR BSCL2 DCTN1 SMN2 SOD1 SQSTM1

Drugs & Therapeutics for Motor Neuron Disease

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

(show top 50) (show all 335)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 1744-22-5 5070
2
Mexiletine Approved, Investigational Phase 4,Phase 2 31828-71-4 4178
3
Goserelin Approved Phase 4 65807-02-5 47725 5311128
4 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Anticonvulsants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
6 Excitatory Amino Acids Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Excitatory Amino Acid Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
10 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
11 Antineoplastic Agents, Hormonal Phase 4,Phase 1,Phase 2
12 Sodium Channel Blockers Phase 4,Phase 3,Phase 2,Phase 1
13 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1
14
Olanzapine Approved, Investigational Phase 2, Phase 3 132539-06-1 4585
15
Valproic Acid Approved, Investigational Phase 3,Phase 1,Phase 2 99-66-1 3121
16
Hydroxyurea Approved Phase 2, Phase 3,Phase 1 127-07-1 3657
17
Iron Approved Phase 2, Phase 3,Not Applicable 7439-89-6 23925
18
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
19
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
20
Pramipexole Approved, Investigational Phase 3,Phase 2,Phase 1 104632-26-0 119570 59868
21
Memantine Approved, Investigational Phase 2, Phase 3 19982-08-2 4054
22
Acetylcholine Approved Phase 2, Phase 3,Not Applicable 51-84-3 187
23
Lenograstim Approved, Investigational Phase 2, Phase 3,Not Applicable 135968-09-1
24
Antipyrine Approved, Investigational Phase 3,Phase 1,Phase 2 60-80-0 2206
25
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Phase 2 93-14-1 3516
26
Dextromethorphan Approved Phase 3,Phase 2 125-71-3 5360696 5362449
27
Quinidine Approved, Investigational Phase 3,Phase 2 56-54-2 441074
28
Methylcobalamin Approved, Experimental, Investigational Phase 2, Phase 3,Phase 3 13422-55-4
29
Hydroxocobalamin Approved Phase 2, Phase 3,Phase 3 13422-51-0 11953898 44475014
30
Tocopherol Approved, Investigational Phase 3 1406-66-2 14986
31
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
32
Minocycline Approved, Investigational Phase 3,Phase 2 10118-90-8 5281021
33
Mecasermin Approved, Investigational Phase 3 68562-41-4
34
Zinc Approved, Investigational Phase 3,Phase 1,Phase 2 7440-66-6
35
Citalopram Approved Phase 3 59729-33-8 2771
36
4-Aminopyridine Approved Phase 2, Phase 3,Phase 1 504-24-5 1727
37
Deferiprone Approved Phase 2, Phase 3,Not Applicable 30652-11-0 2972
38
Creatine Approved, Investigational, Nutraceutical Phase 3,Phase 2 57-00-1 586
39
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3,Phase 2 303-98-0 5281915
40
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1 59-30-3 6037
41
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3,Phase 3 68-19-9 44176380
42
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
43
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 77-92-9 311
44
Cobalamin Experimental Phase 2, Phase 3,Phase 3 13408-78-1 6438156
45 Tocotrienol Investigational Phase 3 6829-55-6
46 Simendan Investigational Phase 3,Phase 2 131741-08-7
47 Serotonin Agents Phase 2, Phase 3,Phase 3,Early Phase 1
48 Serotonin Uptake Inhibitors Phase 2, Phase 3,Phase 3,Early Phase 1
49 Psychotropic Drugs Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
50 Autonomic Agents Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 586)
# Name Status NCT ID Phase Drugs
1 Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis Unknown status NCT00560287 Phase 4
2 Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS) Completed NCT00613899 Phase 4
3 CARE Canadian ALS Riluzole Evaluation Completed NCT00542412 Phase 4 Riluzole
4 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
5 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
6 Olanzapine for the Treatment of Appetite Loss in Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00876772 Phase 2, Phase 3 Olanzapine
7 Study of Creatine Monohydrate in Patients With Amyotrophic Lateral Sclerosis Unknown status NCT00069186 Phase 3 Creatine Monohydrate
8 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
9 Safety and Efficacy on Spasticity Symptoms of a Cannabis Sativa Extract in Motor Neuron Disease Completed NCT01776970 Phase 2, Phase 3 Cannabis Sativa extract Oromucosal spray
10 LIME Study (LFB IVIg MMN Efficacy Study) Completed NCT01951924 Phase 3 Biological : I10E (Human normal Immunoglobulin for intravenous administration 100mg/mL);Biological: Kiovig® (Human normal Immunoglobulin for intravenous administration 100mg/mL)
11 Phase 3 Study of Dexpramipexole in ALS Completed NCT01281189 Phase 3 Dexpramipexole;Placebo
12 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
13 Memantine for Disability in Amyotrophic Lateral Sclerosis (MEDALS) Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;Placebo
14 Phase II/III Randomized, Placebo-controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral Sclerosis Completed NCT00706147 Phase 2, Phase 3 Arimoclomol;Placebo
15 Study of Myobloc in the Treatment of Sialorrhea (Drooling) in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00125203 Phase 2, Phase 3 Botulinum toxin type B (Myobloc)
16 A Study for Patients Who Completed VITALITY-ALS (CY 4031) Completed NCT02936635 Phase 3 tirasemtiv
17 Masitinib in Combination With Riluzole for the Treatment of Patients Suffering From Amyotrophic Lateral Sclerosis (ALS) Completed NCT02588677 Phase 2, Phase 3 Masitinib (4.5);Riluzole;Placebo;Masitinib (3.0)
18 Ventilatory Investigation of Tirasemtiv and Assessment of Longitudinal Indices After Treatment for a Year Completed NCT02496767 Phase 3 tirasemtiv;Placebo tablets;Riluzole 50 MG
19 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
20 The Effect of GCSF in the Treatment of ALS Patients Completed NCT01825551 Phase 2, Phase 3 Granulocyte Colony Stimulating Factor;Placebo
21 Phase 3 Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis Completed NCT01492686 Phase 3 MCI-186;Placebo;MCI-186 in open label phase
22 Safety Extension Study of TRO19622 in ALS Completed NCT01285583 Phase 2, Phase 3 TRO19622
23 Study of Dopamine and Serotonin Transporters in Patients With Amyotrophic Lateral Sclerosis and Controls Completed NCT01160263 Phase 3 SPECT : 123 I-FP-CIT (DATSCAN) and 123I-ADAM
24 Safety and Efficacy of TRO19622 as add-on Therapy to Riluzole Versus Placebo in Treatment of Patients Suffering From Amyotrophic Lateral Sclerosis (ALS) Completed NCT00868166 Phase 2, Phase 3 Olesoxime;Placebo Comparator
25 Repetitive Transcranial Magnetic Stimulation (rTMS) in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
26 Safety and Efficacy of AVP-923 in PBA Patients With ALS or MS Completed NCT00573443 Phase 3 dextromethorphan hydrobromide 20 mg and quinidine sulfate 10 mg;dextromethorphan hydrobromide 30 mg and quinidine sulfate 10 mg;Placebo
27 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
28 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
29 Expanded Controlled Study of Safety and Efficacy of MCI-186 in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00424463 Phase 3 MCI-186;Placebo of MCI-186
30 Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Who Met Severity Classification III Completed NCT00415519 Phase 3 MCI-186;Placebo of MCI-186
31 Clinical Trial of Vitamin E to Treat Muscular Cramps in Patients With ALS Completed NCT00372879 Phase 3
32 Clinical Trial Ceftriaxone in Subjects With ALS Completed NCT00349622 Phase 3 ceftriaxone
33 Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Completed NCT00330681 Phase 3 MCI-186;Placebo of MCI-186
34 Trial of Sodium Valproate in Amyotrophic Lateral Sclerosis Completed NCT00136110 Phase 3 Sodium Valproate
35 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
36 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Trial Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
37 Safety/Efficacy of AVP-923 in the Treatment of Emotional Lability (Uncontrolled Crying & Laughing) in Patients With ALS Completed NCT00021697 Phase 3 AVP-923
38 Escitalopram (Lexapro) for Depression MS or ALS Completed NCT00965497 Phase 3 escitalopram
39 A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Participants With Later-onset Spinal Muscular Atrophy (SMA) Completed NCT02292537 Phase 3 Nusinersen
40 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
41 Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA) Completed NCT00774423 Phase 2, Phase 3 Riluzole
42 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
43 Efficacy of Cannabinoids in Amyotrophic Lateral Sclerosis or Motor Neurone Disease Recruiting NCT03690791 Phase 3 CannTrust CBD Oil (capsule);Placebo (capsule)
44 Clinical Trial of Ultra-high Dose Methylcobalamin for ALS Recruiting NCT03548311 Phase 3 methylcobalamin;saline solution
45 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS Recruiting NCT03505021 Phase 3 Levosimendan;Placebo for levosimendan
46 Safety and Efficacy of Repeated Administrations of NurOwn® in ALS Patients Recruiting NCT03280056 Phase 3
47 Arimoclomol in Amyotropic Lateral Sclerosis Recruiting NCT03491462 Phase 3 Arimoclomol;Placebo oral capsule
48 Pre-Symptomatic Study of Intravenous AVXS-101 in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2 Recruiting NCT03505099 Phase 3
49 Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Recruiting NCT03461289 Phase 3
50 Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Active, not recruiting NCT03306277 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

Anatomical Context for Motor Neuron Disease

MalaCards organs/tissues related to Motor Neuron Disease:

41
Spinal Cord, Brain, Bone, Cortex, Testes, Temporal Lobe, Lung

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

19
The 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 1208)
# Title Authors Year
1
Downbeat nystagmus and lower motor neuron disease: 14A years follow-up. ( 29396677 )
2018
2
Motor neuron disease: Positive trial results published for ground-breaking SMA therapies. ( 29146955 )
2018
3
Tremor in motor neuron disease may be central rather than peripheral in origin. ( 29953699 )
2018
4
Self-Regulation and Executive Functioning as Related to Survival in Motor Neuron Disease: Preliminary Findings. ( 29771729 )
2018
5
Imaging muscle as a potential biomarker of denervation in motor neuron disease. ( 29089397 )
2018
6
Being Yourself and Thinking About the Future in People With Motor Neuron Disease: A Grounded Theory of Self-care Processes. ( 29652734 )
2018
7
Neuron-Specific HuR-Deficient Mice Spontaneously Develop Motor Neuron Disease. ( 29760195 )
2018
8
Motor neuron disease in patients with HIV infection: Report of two cases and brief review of the literature. ( 29909186 )
2018
9
Age-dependent sex ratios of motor neuron disease: French nationwide study and meta-analysis. ( 29602909 )
2018
10
Motor neuron disease in sub-Saharan Africa: case series from a Tanzanian referral hospital. ( 29549191 )
2018
11
An autopsy case of globular glial tauopathy presenting with clinical features of motor neuron disease with dementia and iron deposition in the motor cortex. ( 29508434 )
2018
12
Correlation between bulbar functionality and laryngeal penetration and/or laryngotracheal aspiration on motor neuron disease. ( 29513871 )
2018
13
Motor neuron disease mortality rates in New Zealand 1992-2013. ( 29382218 )
2018
14
A Novel Validation Approach for High-Density Surface EMG Decomposition in Motor Neuron Disease. ( 29877840 )
2018
15
Motor neuron disease: Reactive microglia protect neurons in ALS. ( 29521336 )
2018
16
Pragmatic approach to muscle MRI biomarkers in motor neuron disease. ( 29142141 )
2018
17
Sharing and Empathy in Digital Spaces: Qualitative Study of Online Health Forums for Breast Cancer and Motor Neuron Disease (Amyotrophic Lateral Sclerosis). ( 29903695 )
2018
18
Motor neuron disease of paraneoplastic origin: a rare but treatable condition. ( 29725842 )
2018
19
Motor neuron disease: Benefits of nusinersen extend to later-onset SMA. ( 29497154 )
2018
20
Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration. ( 29916023 )
2018
21
Motor neuron disease in 2017: Progress towards therapy in motor neuron disease. ( 29348545 )
2018
22
Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy. ( 29348544 )
2018
23
Modelling motor neuron disease in fruit flies: Lessons from spinal muscular atrophy. ( 29649521 )
2018
24
Treatment of fatigue in amyotrophic lateral sclerosis/motor neuron disease. ( 29293261 )
2018
25
Atypical lower motor neuron disease with enlargement of Nissl substance: Report of an autopsy case. ( 29350170 )
2018
26
Central nervous system in motor neuron disease. ( 29680791 )
2018
27
Prefrontal cortical thickness in motor neuron disease. ( 29876256 )
2018
28
Mercury and Motor Neuron Disease: Hooked on a Hypothesis. ( 29443385 )
2018
29
The changing landscape of motor neuron disease imaging: the transition from descriptive studies to precision clinical tools. ( 29750730 )
2018
30
Association of Cerebrospinal Fluid Neurofilament Light Protein Levels With Cognition in Patients With Dementia, Motor Neuron Disease, and Movement Disorders. ( 30508027 )
2018
31
Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia. ( 29886477 )
2018
32
Focus on the Role of D-serine and D-amino Acid Oxidase in Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS). ( 29487852 )
2018
33
Autopsy-proven case of paraneoplastic lower motor neuron disease with sensorimotor neuropathy due to Waldenström's macroglobulinemia. ( 30123989 )
2018
34
A Madras Motor Neuron Disease Patient With Cerebellar Atrophy: A New Clinical Feature. ( 30349455 )
2018
35
O'Sullivan-McLeod syndrome: Unmasking a rare atypical motor neuron disease. ( 30409480 )
2018
36
Preconditioning and Cellular Engineering to Increase the Survival of Transplanted Neural Stem Cells for Motor Neuron Disease Therapy. ( 30120734 )
2018
37
Diagnosis and Treatment of Lower Motor Neuron Disease in Australian Dogs and Cats. ( 30159335 )
2018
38
The width of the third ventricle associates with cognition and behaviour in motor neuron disease. ( 30183086 )
2018
39
Large fasciculation can clinically manifest as spinal myoclonus; electromyographic and dynamic echomyographic studies of four cases with motor neuron disease. ( 30214999 )
2018
40
Differentiating fasciculations from myoclonus in motor neuron disease. ( 30215002 )
2018
41
The Swedish motor neuron disease quality registry. ( 30296856 )
2018
42
Finger Extension Weakness and Downbeat Nystagmus Motor Neuron Disease Syndrome: A Series of Two Cases. ( 30383572 )
2018
43
Geographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in Spain. ( 30423874 )
2018
44
Mapping ALSFRS-R and ALSUI to EQ-5D in Patients with Motor Neuron Disease. ( 30442280 )
2018
45
Measurement of spinal cord atrophy using phase sensitive inversion recovery (PSIR) imaging in motor neuron disease. ( 30496320 )
2018
46
Celiac disease presenting as motor neuron disease. ( 30504587 )
2018
47
Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial. ( 30554828 )
2018
48
Evidence for treatment of spasticity in motor neuron disease. ( 30554829 )
2018
49
Phenotypic heterogeneity of astrocytes in motor neuron disease. ( 30555538 )
2018
50
End-of-life Characteristics and Palliative Care Provision for Patients With Motor Neuron Disease. ( 29034688 )
2018

Variations for Motor Neuron Disease

ClinVar genetic disease variations for Motor Neuron Disease:

6 (show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOD1 NM_000454.4(SOD1): c.112G> A (p.Gly38Arg) single nucleotide variant Pathogenic rs121912431 GRCh37 Chromosome 21, 33036142: 33036142
2 SOD1 NM_000454.4(SOD1): c.112G> A (p.Gly38Arg) single nucleotide variant Pathogenic rs121912431 GRCh38 Chromosome 21, 31663829: 31663829
3 SOD1 NM_000454.4(SOD1): c.302A> G (p.Glu101Gly) single nucleotide variant Pathogenic rs121912439 GRCh37 Chromosome 21, 33039633: 33039633
4 SOD1 NM_000454.4(SOD1): c.302A> G (p.Glu101Gly) single nucleotide variant Pathogenic rs121912439 GRCh38 Chromosome 21, 31667320: 31667320
5 SOD1 NM_000454.4(SOD1): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs121912437 GRCh37 Chromosome 21, 33039611: 33039611
6 SOD1 NM_000454.4(SOD1): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs121912437 GRCh38 Chromosome 21, 31667298: 31667298
7 TARDBP NM_007375.3(TARDBP): c.859G> A (p.Gly287Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs80356719 GRCh37 Chromosome 1, 11082325: 11082325
8 TARDBP NM_007375.3(TARDBP): c.859G> A (p.Gly287Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs80356719 GRCh38 Chromosome 1, 11022268: 11022268
9 SOD1 NM_000454.4(SOD1): c.341T> C (p.Ile114Thr) single nucleotide variant Pathogenic rs121912441 GRCh37 Chromosome 21, 33039672: 33039672
10 SOD1 NM_000454.4(SOD1): c.341T> C (p.Ile114Thr) single nucleotide variant Pathogenic rs121912441 GRCh38 Chromosome 21, 31667359: 31667359
11 NEK1 NM_012224.2(NEK1): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs200161705 GRCh37 Chromosome 4, 170506525: 170506525
12 NEK1 NM_012224.2(NEK1): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs200161705 GRCh38 Chromosome 4, 169585374: 169585374
13 TARDBP NM_007375.3(TARDBP): c.1043G> T (p.Gly348Val) single nucleotide variant Pathogenic rs1131690782 GRCh37 Chromosome 1, 11082509: 11082509
14 TARDBP NM_007375.3(TARDBP): c.1043G> T (p.Gly348Val) single nucleotide variant Pathogenic rs1131690782 GRCh38 Chromosome 1, 11022452: 11022452
15 TARDBP NM_007375.3(TARDBP): c.1122T> G (p.Tyr374Ter) single nucleotide variant Uncertain significance rs147795017 GRCh38 Chromosome 1, 11022531: 11022531
16 TARDBP NM_007375.3(TARDBP): c.1122T> G (p.Tyr374Ter) single nucleotide variant Uncertain significance rs147795017 GRCh37 Chromosome 1, 11082588: 11082588
17 NEK1 NM_012224.2(NEK1): c.3056C> T (p.Ser1019Leu) single nucleotide variant Likely pathogenic rs377607698 GRCh37 Chromosome 4, 170345786: 170345786
18 NEK1 NM_012224.2(NEK1): c.3056C> T (p.Ser1019Leu) single nucleotide variant Likely pathogenic rs377607698 GRCh38 Chromosome 4, 169424635: 169424635
19 NEK1 NM_012224.2(NEK1): c.2308C> G (p.Leu770Val) single nucleotide variant Likely benign rs1131690778 GRCh38 Chromosome 4, 169477166: 169477166
20 NEK1 NM_012224.2(NEK1): c.2308C> G (p.Leu770Val) single nucleotide variant Likely benign rs1131690778 GRCh37 Chromosome 4, 170398317: 170398317
21 NEK1 NM_012224.2(NEK1): c.2284G> A (p.Ala762Thr) single nucleotide variant Likely benign rs1131690777 GRCh38 Chromosome 4, 169477190: 169477190
22 NEK1 NM_012224.2(NEK1): c.2284G> A (p.Ala762Thr) single nucleotide variant Likely benign rs1131690777 GRCh37 Chromosome 4, 170398341: 170398341
23 NEK1 NM_012224.2(NEK1): c.2222A> G (p.His741Arg) single nucleotide variant Likely benign rs375173827 GRCh37 Chromosome 4, 170398403: 170398403
24 NEK1 NM_012224.2(NEK1): c.2222A> G (p.His741Arg) single nucleotide variant Likely benign rs375173827 GRCh38 Chromosome 4, 169477252: 169477252
25 NEK1 NM_012224.2(NEK1): c.2151T> G (p.Asn717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34324114 GRCh38 Chromosome 4, 169477323: 169477323
26 NEK1 NM_012224.2(NEK1): c.2151T> G (p.Asn717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34324114 GRCh37 Chromosome 4, 170398474: 170398474
27 NEK1 NM_012224.2(NEK1): c.2053G> A (p.Val685Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199827465 GRCh37 Chromosome 4, 170400556: 170400556
28 NEK1 NM_012224.2(NEK1): c.2053G> A (p.Val685Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199827465 GRCh38 Chromosome 4, 169479405: 169479405
29 NEK1 NM_012224.2(NEK1): c.1864delC (p.Gln622Asnfs) deletion other rs1131690774 GRCh37 Chromosome 4, 170428247: 170428247
30 NEK1 NM_012224.2(NEK1): c.1864delC (p.Gln622Asnfs) deletion other rs1131690774 GRCh38 Chromosome 4, 169507096: 169507096
31 NEK1 NM_012224.2(NEK1): c.1827_1827+1insTATA insertion Uncertain significance rs1131690779 GRCh37 Chromosome 4, 170428865: 170428866
32 NEK1 NM_012224.2(NEK1): c.1827_1827+1insTATA insertion Uncertain significance rs1131690779 GRCh38 Chromosome 4, 169507714: 169507715
33 NEK1 NM_012224.2(NEK1): c.1705T> A (p.Phe569Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs776098853 GRCh38 Chromosome 4, 169508292: 169508292
34 NEK1 NM_012224.2(NEK1): c.1705T> A (p.Phe569Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs776098853 GRCh37 Chromosome 4, 170429443: 170429443
35 NEK1 NM_012224.2(NEK1): c.1666-5T> C single nucleotide variant Uncertain significance rs199522035 GRCh37 Chromosome 4, 170429487: 170429487
36 NEK1 NM_012224.2(NEK1): c.1666-5T> C single nucleotide variant Uncertain significance rs199522035 GRCh38 Chromosome 4, 169508336: 169508336
37 NEK1 NM_012224.2(NEK1): c.1137T> A (p.Asp379Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs372585344 GRCh38 Chromosome 4, 169561835: 169561835
38 NEK1 NM_012224.2(NEK1): c.1137T> A (p.Asp379Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs372585344 GRCh37 Chromosome 4, 170482986: 170482986
39 NEK1 NM_012224.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 GRCh38 Chromosome 4, 169562196: 169562196
40 NEK1 NM_012224.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 GRCh37 Chromosome 4, 170483347: 170483347
41 NEK1 NM_012224.2(NEK1): c.827G> T (p.Cys276Phe) single nucleotide variant Uncertain significance rs1131690776 GRCh37 Chromosome 4, 170502034: 170502034
42 NEK1 NM_012224.2(NEK1): c.827G> T (p.Cys276Phe) single nucleotide variant Uncertain significance rs1131690776 GRCh38 Chromosome 4, 169580883: 169580883
43 NEK1 NM_012224.2(NEK1): c.695G> A (p.Arg232His) single nucleotide variant Conflicting interpretations of pathogenicity rs772747361 GRCh38 Chromosome 4, 169585461: 169585461
44 NEK1 NM_012224.2(NEK1): c.695G> A (p.Arg232His) single nucleotide variant Conflicting interpretations of pathogenicity rs772747361 GRCh37 Chromosome 4, 170506612: 170506612
45 NEK1 NM_012224.2(NEK1): c.481C> T (p.Arg161Ter) single nucleotide variant other rs202115635 GRCh38 Chromosome 4, 169588719: 169588719
46 NEK1 NM_012224.2(NEK1): c.481C> T (p.Arg161Ter) single nucleotide variant other rs202115635 GRCh37 Chromosome 4, 170509870: 170509870
47 NEK1 NM_012224.2(NEK1): c.386T> G (p.Ile129Ser) single nucleotide variant Likely pathogenic rs1131690775 GRCh38 Chromosome 4, 169590736: 169590736
48 NEK1 NM_012224.2(NEK1): c.386T> G (p.Ile129Ser) single nucleotide variant Likely pathogenic rs1131690775 GRCh37 Chromosome 4, 170511887: 170511887
49 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant other rs1049502301 GRCh38 Chromosome 4, 169602007: 169602007
50 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant other rs1049502301 GRCh37 Chromosome 4, 170523158: 170523158

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 DCTN1 MAPT NEFH OPTN SLC1A2 SOD1
2
Show member pathways
11.47 DCTN1 INA NEFH
3
Show member pathways
11.31 ALS2 NEFH SLC1A2 SOD1
4 11.14 OPTN SQSTM1 TBK1

GO Terms for Motor Neuron Disease

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.63 ALS2 DCTN1 MAPT SMN1 SMN2 SOD1
2 myelin sheath GO:0043209 9.62 INA NEFH SOD1 VCP
3 SMN-Sm protein complex GO:0034719 9.51 SMN1 SMN2
4 axolemma GO:0030673 9.49 MAPT SLC1A2
5 Gemini of coiled bodies GO:0097504 9.46 SMN1 SMN2
6 SMN complex GO:0032797 9.43 SMN1 SMN2
7 axon GO:0030424 9.43 ALS2 CNTF DCTN1 MAPT NEFH SLC1A2
8 neurofilament GO:0005883 9.4 INA NEFH
9 neurofibrillary tangle GO:0097418 9.37 MAPT NEFH
10 cytoplasmic ribonucleoprotein granule GO:0036464 8.92 INA MAPT SMN1 SMN2
11 nucleoplasm GO:0005654 10.18 AR INA OPTN SMN1 SMN2 SOD1
12 cytoplasm GO:0005737 10.13 ALS2 AR CNTF DCTN1 MAPT NAIP

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.5 CNTF DCTN1 INA NAIP SLC1A2 SMN1
2 positive regulation of microtubule polymerization GO:0031116 9.49 DCTN1 MAPT
3 import into nucleus GO:0051170 9.48 SMN1 SMN2
4 axon development GO:0061564 9.46 MAPT NEFH
5 positive regulation of superoxide anion generation GO:0032930 9.43 MAPT SOD1
6 DNA-templated transcription, termination GO:0006353 9.4 SMN1 SMN2
7 astrocyte activation GO:0048143 9.37 CNTF MAPT
8 positive regulation of xenophagy GO:1904417 9.32 OPTN TBK1
9 postsynaptic intermediate filament cytoskeleton organization GO:0099185 9.26 INA NEFH
10 axonal transport GO:0098930 9.16 DCTN1 MAPT
11 neurofilament cytoskeleton organization GO:0060052 8.8 INA NEFH SOD1

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 ALS2 AR BSCL2 CHCHD10 CNTF DCTN1
2 protein binding, bridging GO:0030674 9.43 MAPT NEFH OPTN
3 dynein complex binding GO:0070840 9.37 DCTN1 NEFH
4 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.32 OPTN SQSTM1
5 identical protein binding GO:0042802 9.28 MAPT OPTN SMN1 SMN2 SOD1 SQSTM1
6 structural constituent of postsynaptic intermediate filament cytoskeleton GO:0099184 9.16 INA NEFH

Sources for Motor Neuron Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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