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
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 progressive muscular atrophy and frontotemporal dementia and/or amyotrophic lateral sclerosis 1, and has symptoms including ataxia, muscular fasciculation 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 behavior/neurological and cellular

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

Wikipedia : 76 A motor neuron disease (MND) is any of several neurodegenerative disorders that selectively affect motor... 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 202)
# Related Disease Score Top Affiliating Genes
1 progressive muscular atrophy 33.6 SMN1 SMN2 TARDBP
2 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 33.5 GRN SQSTM1 TARDBP TBK1 VCP
3 lateral sclerosis 33.1 ALS2 DCTN1 NEFH OPTN SOD1 SQSTM1
4 supranuclear palsy, progressive, 1 32.9 GRN MAPT TARDBP
5 anterior horn cell disease 32.9 SMN1 SMN2 TARDBP
6 pick disease of brain 32.8 GRN MAPT SQSTM1 TARDBP
7 spinal muscular atrophy 32.5 AR HEXA NAIP SMN1 SMN2
8 frontotemporal dementia 32.4 GRN INA MAPT NEFH SOD1 SQSTM1
9 muscular atrophy 31.4 AR NAIP SMN1 SMN2
10 dementia 31.4 GRN MAPT SQSTM1 TARDBP TBK1 VCP
11 amyotrophic lateral sclerosis 2, juvenile 31.1 ALS2 SOD1
12 semantic dementia 31.1 GRN MAPT TARDBP
13 spinal muscular atrophy, type i 31.0 NAIP SMN1 SMN2
14 brown-vialetto-van laere syndrome 31.0 ALS2 NAIP SOD1 TARDBP
15 paget's disease of bone 30.8 OPTN SQSTM1 VCP
16 amyotrophic lateral sclerosis 1 30.6 ALS2 CNTF DCTN1 GRN HEXA INA
17 inclusion body myositis 30.6 MAPT SQSTM1 TARDBP VCP
18 charcot-marie-tooth disease 30.2 BSCL2 CNTF DCTN1 NEFH VCP
19 alzheimer disease 29.8 GRN MAPT SLC1A2 SOD1 SQSTM1 TARDBP
20 madras motor neuron disease 12.5
21 motor neuron disease with dementia and ophthalmoplegia 12.1
22 neuronopathy, distal hereditary motor, type viib 11.6
23 spinal muscular atrophy, distal, autosomal recessive, 4 11.6
24 spinal and bulbar muscular atrophy, x-linked 1 11.4
25 juvenile amyotrophic lateral sclerosis 11.4
26 hereditary spastic paraplegia 11.1
27 neuronitis 11.1
28 fazio-londe disease 11.1
29 spastic paraplegia 20, autosomal recessive 11.1
30 progressive bulbar palsy 11.1
31 amyotrophic lateral sclerosis 11 11.0 ALS2 OPTN TARDBP
32 amyotrophic lateral sclerosis 7 11.0 ALS2 OPTN TARDBP
33 amyotrophic lateral sclerosis 9 11.0 ALS2 OPTN TARDBP
34 amyotrophic lateral sclerosis 16, juvenile 11.0 ALS2 SOD1
35 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 11.0 ALS2 OPTN TARDBP
36 phonagnosia 11.0 GRN TARDBP
37 associative agnosia 10.9 GRN TARDBP
38 survival motor neuron spinal muscular atrophy 10.9 NAIP SMN1 SMN2
39 amyotrophy, monomelic 10.9
40 o'sullivan-mcleod syndrome 10.9
41 spinal muscular atrophy, type iii 10.9 NAIP SMN1 SMN2
42 spinal muscular atrophy, type ii 10.9 NAIP SMN1 SMN2
43 spinal disease 10.9 NAIP SMN1 SMN2
44 spinal muscular atrophy, type iv 10.9 SMN1 SMN2
45 amyotrophic lateral sclerosis type 14 10.9 OPTN TARDBP VCP
46 proximal spinal muscular atrophy 10.9 NAIP SMN1 SMN2
47 amyotrophic lateral sclerosis 18 10.9 SOD1 TARDBP
48 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.9 GRN MAPT
49 writing disorder 10.9 GRN TARDBP
50 amyotrophic lateral sclerosis type 6 10.9 ALS2 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, muscular fasciculation, hemiplegia, myoclonus

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 10.39 ALS2 AR BSCL2 CNTF DCTN1 GRN
2 cellular MP:0005384 10.31 AR BSCL2 CNTF DCTN1 GRN MAPT
3 homeostasis/metabolism MP:0005376 10.31 ALS2 AR BSCL2 CNTF DCTN1 GRN
4 growth/size/body region MP:0005378 10.22 AR BSCL2 HEXA MAPT SLC1A2 SMN2
5 immune system MP:0005387 10.22 VCP ALS2 AR BSCL2 CNTF DCTN1
6 hematopoietic system MP:0005397 10.2 AR BSCL2 CNTF DCTN1 GRN MAPT
7 mortality/aging MP:0010768 10.13 ALS2 AR BSCL2 DCTN1 GRN HEXA
8 integument MP:0010771 9.97 AR BSCL2 MAPT SMN2 SOD1 SQSTM1
9 liver/biliary system MP:0005370 9.87 AR BSCL2 GRN HEXA SOD1 SQSTM1
10 nervous system MP:0003631 9.83 AR CNTF DCTN1 GRN HEXA INA
11 muscle MP:0005369 9.76 TARDBP VCP ALS2 AR CNTF MAPT
12 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 316)
# 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 Anticonvulsants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Excitatory Amino Acid Antagonists 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 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
9 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
11 Antineoplastic Agents, Hormonal Phase 4,Phase 1,Phase 2
12 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1
13 Sodium Channel Blockers 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
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
19
Pramipexole Approved, Investigational Phase 3,Phase 2,Phase 1 104632-26-0 59868 119570
20
Memantine Approved, Investigational Phase 2, Phase 3 19982-08-2 4054
21
Acetylcholine Approved Phase 2, Phase 3,Not Applicable 51-84-3 187
22
Lenograstim Approved, Investigational Phase 2, Phase 3,Not Applicable 135968-09-1
23
Antipyrine Approved, Investigational Phase 3,Phase 1,Phase 2 60-80-0 2206
24
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 44475014
25
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
26
Minocycline Approved, Investigational Phase 3,Phase 2 10118-90-8 5281021
27
Zinc Approved, Investigational Phase 3,Phase 1,Phase 2 7440-66-6 23994
28
Dextromethorphan Approved Phase 3,Phase 2 125-71-3 5360696 5362449
29
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Phase 2 93-14-1 3516
30
Quinidine Approved, Investigational Phase 3,Phase 2 56-54-2 441074
31
Citalopram Approved Phase 3 59729-33-8 2771
32
4-Aminopyridine Approved Phase 2, Phase 3,Phase 1 504-24-5 1727
33
Deferiprone Approved Phase 2, Phase 3,Not Applicable 30652-11-0 2972
34
Creatine Approved, Investigational, Nutraceutical Phase 3,Phase 2 57-00-1 586
35
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3 13422-55-4
36
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
37
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
38
Tocopherol Approved, Investigational, Nutraceutical Phase 3 1406-66-2 14986
39
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
40
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3,Phase 2 303-98-0 5281915
41 Antiemetics Phase 2, Phase 3
42 Antipsychotic Agents Phase 2, Phase 3
43 Autonomic Agents Phase 2, Phase 3,Phase 3,Phase 1
44 Central Nervous System Depressants Phase 2, Phase 3,Phase 3,Phase 1
45 Gastrointestinal Agents Phase 2, Phase 3,Phase 1
46 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3,Phase 3,Early Phase 1
47 Peripheral Nervous System Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
48 Psychotropic Drugs Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
49 Serotonin Agents Phase 2, Phase 3,Phase 3,Early Phase 1
50 Serotonin Uptake Inhibitors Phase 2, Phase 3,Phase 3,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 548)
# 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 The Objective is to Compare the Efficacy and Safety of Masitinib in Combination With Riluzole in the Treatment of Patients Suffering From Amyotrophic Lateral Sclerosis (ALS) Completed NCT02588677 Phase 2, Phase 3 Masitinib (AB1010);Riluzole;Placebo
17 Ventilatory Investigation of Tirasemtiv and Assessment of Longitudinal Indices After Treatment for a Year Completed NCT02496767 Phase 3 tirasemtiv;Placebo tablets
18 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
19 The Effect of GCSF in the Treatment of ALS Patients Completed NCT01825551 Phase 2, Phase 3 Granulocyte Colony Stimulating Factor;Placebo
20 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
21 Safety Extension Study of TRO19622 in ALS Completed NCT01285583 Phase 2, Phase 3 TRO19622
22 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
23 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
24 Repetitive Transcranial Magnetic Stimulation (rTMS) in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
25 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
26 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
27 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
28 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
29 Clinical Trial of Vitamin E to Treat Muscular Cramps in Patients With ALS Completed NCT00372879 Phase 3
30 Clinical Trial Ceftriaxone in Subjects With ALS Completed NCT00349622 Phase 3 ceftriaxone
31 Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Completed NCT00330681 Phase 3 MCI-186;Placebo of MCI-186
32 Trial of Sodium Valproate in Amyotrophic Lateral Sclerosis Completed NCT00136110 Phase 3 Sodium Valproate
33 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
34 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Trial Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
35 Safety/Efficacy of AVP-923 in the Treatment of Emotional Lability (Uncontrolled Crying & Laughing) in Patients With ALS Completed NCT00021697 Phase 3 AVP-923
36 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
37 Escitalopram (Lexapro) for Depression MS or ALS Completed NCT00965497 Phase 3 escitalopram
38 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
39 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
40 Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA) Completed NCT00774423 Phase 2, Phase 3 Riluzole
41 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
42 Clinical Trial of Ultra-high Dose Methylcobalamin for ALS Recruiting NCT03548311 Phase 3 methylcobalamin;saline solution
43 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS Recruiting NCT03505021 Phase 3 Levosimendan;Placebo for levosimendan
44 Safety and Efficacy of Repeated Administrations of NurOwn® in ALS Patients Recruiting NCT03280056 Phase 3
45 Pre-Symptomatic Study of Intravenous AVXS-101 in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2 Recruiting NCT03505099 Phase 3
46 Investigate Safety, Tolerability, PK, PD and Efficacy of RO7034067 in Infants With Type1 Spinal Muscular Atrophy Recruiting NCT02913482 Phase 2, Phase 3 RO7034067
47 A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy (SMA) Participants Recruiting NCT02908685 Phase 2, Phase 3 Placebo;RO7034067
48 A Study for Patients Who Completed VITALITY-ALS (CY 4031) Active, not recruiting NCT02936635 Phase 3 tirasemtiv
49 Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Active, not recruiting NCT03306277 Phase 3
50 A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies. Enrolling by invitation NCT02594124 Phase 3 nusinersen

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

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

19
The Motor Neurones

MalaCards organs/tissues related to Motor Neuron Disease:

41
Brain, Bone, Spinal Cord, Testes, Bone Marrow, Tongue, Lung
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 840)
# 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
Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia. ( 29886477 )
2018
31
Jaw clonus in motor neuron disease: an interesting case and review of literature. ( 29238910 )
2017
32
Motor neuron disease in patients with HIV infection. ( 28894036 )
2017
33
Message banking: Perceptions of persons with motor neuron disease, significant others and clinicians. ( 28756688 )
2017
34
Risk factors for respiratory failure of motor neuron disease in a multiracial Asian population. ( 28089419 )
2017
35
The emerging picture of ALS: a multisystem, not only a "motor neuron disease. ( 29405027 )
2017
36
Pigment retinopathy in warmblood horses with equine degenerative myeloencephalopathy and equine motor neuron disease. ( 29105975 )
2017
37
Symptomatic treatments for amyotrophic lateral sclerosis/motor neuron disease. ( 28072907 )
2017
38
Cerebrospinal fluid neurofilament light concentration in motor neuron disease and frontotemporal dementia predicts survival. ( 28631955 )
2017
39
Radiation-induced tongue myokymia with hypoglossal nerve damage, mimicker of motor neuron disease. ( 28588874 )
2017
40
The development of neurology palliative care service for motor neuron disease (MND) patients: Hong Kong experience. ( 29156906 )
2017
41
Does advance care planning improve the quality of life of patients with motor neuron disease? ( 29102531 )
2017
42
Decremental responses in patients with motor neuron disease. ( 29201547 )
2017
43
Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 gene. ( 28431575 )
2017
44
Hereditary spastic paraplegia: More than an upper motor neuron disease. ( 28449883 )
2017
45
Diagnostic contribution of magnetic resonance imaging in an atypical presentation of motor neuron disease. ( 29312877 )
2017
46
Amygdala TDP-43 Pathology in Frontotemporal Lobar Degeneration and Motor Neuron Disease. ( 28859337 )
2017
47
Camptocormia as presenting in lower motor neuron disease with TARDBP mutation: case report. ( 28573484 )
2017
48
Longitudinal Diffusion-Weighted Whole-Body MRI Demonstrates Dynamic Changes in Muscle Integrity in Motor Neuron Disease. ( 29278900 )
2017
49
Motor neuron disease mortality and lifetime petrol lead exposure: Evidence from national age-specific and state-level age-standardized death rates in Australia. ( 27992849 )
2017
50
Voltage-Gated Potassium Channel Antibodies in Slow-Progression Motor Neuron Disease. ( 27710962 )
2017

Variations for Motor Neuron Disease

ClinVar genetic disease variations for Motor Neuron Disease:

6
(show top 50) (show all 72)
# 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 SOD1 NM_000454.4(SOD1): c.341T> C (p.Ile114Thr) single nucleotide variant Pathogenic rs121912441 GRCh37 Chromosome 21, 33039672: 33039672
8 SOD1 NM_000454.4(SOD1): c.341T> C (p.Ile114Thr) single nucleotide variant Pathogenic rs121912441 GRCh38 Chromosome 21, 31667359: 31667359
9 NEK1 NM_012224.2(NEK1): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs200161705 GRCh37 Chromosome 4, 170506525: 170506525
10 NEK1 NM_012224.2(NEK1): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs200161705 GRCh38 Chromosome 4, 169585374: 169585374
11 NEK1 NM_012224.2(NEK1): c.1827_1827+1insTATA insertion Uncertain significance rs1131690779 GRCh37 Chromosome 4, 170428865: 170428866
12 TARDBP NM_007375.3(TARDBP): c.1043G> T (p.Gly348Val) single nucleotide variant Pathogenic rs1131690782 GRCh37 Chromosome 1, 11082509: 11082509
13 TARDBP NM_007375.3(TARDBP): c.1043G> T (p.Gly348Val) single nucleotide variant Pathogenic rs1131690782 GRCh38 Chromosome 1, 11022452: 11022452
14 TARDBP NM_007375.3(TARDBP): c.1122T> G (p.Tyr374Ter) single nucleotide variant Uncertain significance rs147795017 GRCh38 Chromosome 1, 11022531: 11022531
15 TARDBP NM_007375.3(TARDBP): c.1122T> G (p.Tyr374Ter) single nucleotide variant Uncertain significance rs147795017 GRCh37 Chromosome 1, 11082588: 11082588
16 NEK1 NM_012224.2(NEK1): c.3056C> T (p.Ser1019Leu) single nucleotide variant Likely pathogenic rs377607698 GRCh37 Chromosome 4, 170345786: 170345786
17 NEK1 NM_012224.2(NEK1): c.3056C> T (p.Ser1019Leu) single nucleotide variant Likely pathogenic rs377607698 GRCh38 Chromosome 4, 169424635: 169424635
18 NEK1 NM_012224.2(NEK1): c.2308C> G (p.Leu770Val) single nucleotide variant Likely benign rs1131690778 GRCh38 Chromosome 4, 169477166: 169477166
19 NEK1 NM_012224.2(NEK1): c.2308C> G (p.Leu770Val) single nucleotide variant Likely benign rs1131690778 GRCh37 Chromosome 4, 170398317: 170398317
20 NEK1 NM_012224.2(NEK1): c.2284G> A (p.Ala762Thr) single nucleotide variant Likely benign rs1131690777 GRCh38 Chromosome 4, 169477190: 169477190
21 NEK1 NM_012224.2(NEK1): c.2284G> A (p.Ala762Thr) single nucleotide variant Likely benign rs1131690777 GRCh37 Chromosome 4, 170398341: 170398341
22 NEK1 NM_012224.2(NEK1): c.2222A> G (p.His741Arg) single nucleotide variant Likely benign rs375173827 GRCh37 Chromosome 4, 170398403: 170398403
23 NEK1 NM_012224.2(NEK1): c.2222A> G (p.His741Arg) single nucleotide variant Likely benign rs375173827 GRCh38 Chromosome 4, 169477252: 169477252
24 NEK1 NM_012224.2(NEK1): c.2151T> G (p.Asn717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34324114 GRCh38 Chromosome 4, 169477323: 169477323
25 NEK1 NM_012224.2(NEK1): c.2151T> G (p.Asn717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34324114 GRCh37 Chromosome 4, 170398474: 170398474
26 NEK1 NM_012224.2(NEK1): c.2053G> A (p.Val685Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199827465 GRCh37 Chromosome 4, 170400556: 170400556
27 NEK1 NM_012224.2(NEK1): c.2053G> A (p.Val685Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199827465 GRCh38 Chromosome 4, 169479405: 169479405
28 NEK1 NM_012224.2(NEK1): c.1864delC (p.Gln622Asnfs) deletion other rs1131690774 GRCh37 Chromosome 4, 170428247: 170428247
29 NEK1 NM_012224.2(NEK1): c.1864delC (p.Gln622Asnfs) deletion other rs1131690774 GRCh38 Chromosome 4, 169507096: 169507096
30 NEK1 NM_012224.2(NEK1): c.1827_1827+1insTATA insertion Uncertain significance rs1131690779 GRCh38 Chromosome 4, 169507714: 169507715
31 NEK1 NM_012224.2(NEK1): c.1705T> A (p.Phe569Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs776098853 GRCh38 Chromosome 4, 169508292: 169508292
32 NEK1 NM_012224.2(NEK1): c.1705T> A (p.Phe569Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs776098853 GRCh37 Chromosome 4, 170429443: 170429443
33 NEK1 NM_012224.2(NEK1): c.1666-5T> C single nucleotide variant Uncertain significance rs199522035 GRCh37 Chromosome 4, 170429487: 170429487
34 NEK1 NM_012224.2(NEK1): c.1666-5T> C single nucleotide variant Uncertain significance rs199522035 GRCh38 Chromosome 4, 169508336: 169508336
35 NEK1 NM_012224.2(NEK1): c.1137T> A (p.Asp379Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs372585344 GRCh38 Chromosome 4, 169561835: 169561835
36 NEK1 NM_012224.2(NEK1): c.1137T> A (p.Asp379Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs372585344 GRCh37 Chromosome 4, 170482986: 170482986
37 NEK1 NM_012224.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 GRCh38 Chromosome 4, 169562196: 169562196
38 NEK1 NM_012224.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 GRCh37 Chromosome 4, 170483347: 170483347
39 NEK1 NM_012224.2(NEK1): c.827G> T (p.Cys276Phe) single nucleotide variant Uncertain significance rs1131690776 GRCh37 Chromosome 4, 170502034: 170502034
40 NEK1 NM_012224.2(NEK1): c.827G> T (p.Cys276Phe) single nucleotide variant Uncertain significance rs1131690776 GRCh38 Chromosome 4, 169580883: 169580883
41 NEK1 NM_012224.2(NEK1): c.695G> A (p.Arg232His) single nucleotide variant Conflicting interpretations of pathogenicity rs772747361 GRCh38 Chromosome 4, 169585461: 169585461
42 NEK1 NM_012224.2(NEK1): c.695G> A (p.Arg232His) single nucleotide variant Conflicting interpretations of pathogenicity rs772747361 GRCh37 Chromosome 4, 170506612: 170506612
43 NEK1 NM_012224.2(NEK1): c.481C> T (p.Arg161Ter) single nucleotide variant other rs202115635 GRCh38 Chromosome 4, 169588719: 169588719
44 NEK1 NM_012224.2(NEK1): c.481C> T (p.Arg161Ter) single nucleotide variant other rs202115635 GRCh37 Chromosome 4, 170509870: 170509870
45 NEK1 NM_012224.2(NEK1): c.386T> G (p.Ile129Ser) single nucleotide variant Likely pathogenic rs1131690775 GRCh38 Chromosome 4, 169590736: 169590736
46 NEK1 NM_012224.2(NEK1): c.386T> G (p.Ile129Ser) single nucleotide variant Likely pathogenic rs1131690775 GRCh37 Chromosome 4, 170511887: 170511887
47 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant other rs1049502301 GRCh38 Chromosome 4, 169602007: 169602007
48 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant other rs1049502301 GRCh37 Chromosome 4, 170523158: 170523158
49 OPTN NM_001008212.1(OPTN): c.280A> C (p.Lys94Gln) single nucleotide variant Likely pathogenic rs895824243 GRCh37 Chromosome 10, 13152387: 13152387
50 OPTN NM_001008212.1(OPTN): c.280A> C (p.Lys94Gln) single nucleotide variant Likely pathogenic rs895824243 GRCh38 Chromosome 10, 13110387: 13110387

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 13)
# Name GO ID Score Top Affiliating Genes
1 perikaryon GO:0043204 9.7 NAIP SMN1 SMN2
2 axon GO:0030424 9.65 ALS2 CNTF MAPT NEFH SLC1A2
3 axolemma GO:0030673 9.51 MAPT SLC1A2
4 SMN-Sm protein complex GO:0034719 9.49 SMN1 SMN2
5 SMN complex GO:0032797 9.46 SMN1 SMN2
6 myelin sheath GO:0043209 9.46 INA NEFH SOD1 VCP
7 Gemini of coiled bodies GO:0097504 9.43 SMN1 SMN2
8 neuron projection GO:0043005 9.43 ALS2 MAPT NAIP SMN1 SMN2 SOD1
9 neurofilament GO:0005883 9.4 INA NEFH
10 neurofibrillary tangle GO:0097418 9.32 MAPT NEFH
11 cytoplasmic ribonucleoprotein granule GO:0036464 8.92 INA MAPT SMN1 SMN2
12 cytoplasm GO:0005737 10.24 ALS2 AR CNTF DCTN1 MAPT NAIP
13 nucleoplasm GO:0005654 10.18 AR INA OPTN SMN1 SMN2 SOD1

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.5 CNTF DCTN1 INA NAIP SLC1A2 SMN1
2 import into nucleus GO:0051170 9.46 SMN1 SMN2
3 intermediate filament cytoskeleton organization GO:0045104 9.43 INA NEFH
4 positive regulation of superoxide anion generation GO:0032930 9.4 MAPT SOD1
5 axon development GO:0061564 9.37 MAPT NEFH
6 DNA-templated transcription, termination GO:0006353 9.32 SMN1 SMN2
7 astrocyte activation GO:0048143 9.26 CNTF MAPT
8 positive regulation of xenophagy GO:1904417 9.16 OPTN TBK1
9 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 CNTF DCTN1 GRN
2 protein binding, bridging GO:0030674 9.33 MAPT NEFH OPTN
3 identical protein binding GO:0042802 9.28 MAPT OPTN SMN1 SMN2 SOD1 SQSTM1
4 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.26 OPTN SQSTM1

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
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38 LifeMap
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42 MedGen
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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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