Aliases & Classifications for Motor Neuron Disease

MalaCards integrated aliases for Motor Neuron Disease:

Name: Motor Neuron Disease 37 12 72 51 14 69
Motor Neuron Diseases 50

Classifications:



External Ids:

Disease Ontology 12 DOID:231
ICD10 32 G12.2 G12.20
ICD9CM 34 335.2
MeSH 41 D016472
UMLS 69 C0085084

Summaries for Motor Neuron Disease

NINDS : 50 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 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 and progressive muscular atrophy, and has symptoms including myoclonus, hemiplegia and muscular fasciculation. 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 : 72 A motor neuron disease (MND) is any of several neurodegenerative disoders 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 195)
# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 33.4 GRN SQSTM1 TARDBP VCP
2 progressive muscular atrophy 33.0 SMN1 SMN2 TARDBP
3 frontotemporal dementia 32.7 GRN INA MAPT NEFH SOD1 SQSTM1
4 supranuclear palsy, progressive, 1 32.5 GRN MAPT TARDBP
5 pick disease of brain 32.4 GRN MAPT SQSTM1 TARDBP
6 anterior horn cell disease 32.4 SMN1 SMN2 TARDBP
7 spinal muscular atrophy 32.3 AR HEXA NAIP SMN1 SMN2
8 lateral sclerosis 32.2 ALS2 DCTN1 NEFH NEK1 SLC1A2 SOD1
9 amyotrophic lateral sclerosis 2, juvenile 31.5 ALS2 SOD1
10 dementia 31.3 GRN MAPT SQSTM1 TARDBP VCP
11 amyotrophic lateral sclerosis 1 31.0 ALS2 CNTF DCTN1 GRN HEXA INA
12 muscular atrophy 30.9 AR DCTN1 NAIP SMN1 SMN2
13 semantic dementia 30.7 GRN MAPT TARDBP
14 spinal muscular atrophy, type i 30.6 NAIP SMN1 SMN2
15 brown-vialetto-van laere syndrome 30.5 ALS2 NAIP SOD1 TARDBP
16 inclusion body myositis 30.2 MAPT SQSTM1 TARDBP VCP
17 alzheimer disease 29.8 GRN MAPT SLC1A2 SOD1 SQSTM1 TARDBP
18 madras motor neuron disease 12.5
19 motor neuron disease with dementia and ophthalmoplegia 12.1
20 neuronopathy, distal hereditary motor, type viib 11.6
21 spinal muscular atrophy, distal, autosomal recessive, 4 11.6
22 spinal and bulbar muscular atrophy, x-linked 1 11.4
23 juvenile amyotrophic lateral sclerosis 11.4
24 spastic paraplegia 20, autosomal recessive 11.1
25 progressive bulbar palsy 11.1
26 neuronitis 11.1
27 amyotrophy, monomelic 11.0
28 hyperreflexia 10.8
29 spastic paraplegia 17, autosomal dominant 10.8
30 spastic paraplegia 2, x-linked 10.8
31 spastic paraplegia 39, autosomal recessive 10.8
32 spinal muscular atrophy, jokela type 10.8
33 pontocerebellar hypoplasia, type 1c 10.8
34 patulous eustachian tube 10.8
35 o'sullivan-mcleod syndrome 10.8
36 phonagnosia 10.6 GRN TARDBP
37 survival motor neuron spinal muscular atrophy 10.6 NAIP SMN1 SMN2
38 amyotrophic lateral sclerosis 16, juvenile 10.6 ALS2 SOD1
39 spinal muscular atrophy, type ii 10.6 NAIP SMN1 SMN2
40 spinal muscular atrophy, type iii 10.6 NAIP SMN1 SMN2
41 associative agnosia 10.6 GRN TARDBP
42 spinal disease 10.6 NAIP SMN1 SMN2
43 proximal spinal muscular atrophy 10.6 NAIP SMN1 SMN2
44 spinal muscular atrophy, type iv 10.6 SMN1 SMN2
45 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.6 GRN MAPT
46 amyotrophic lateral sclerosis 21 10.6 SOD1 TARDBP VCP
47 amyotrophic lateral sclerosis 19 10.6 ALS2 CNTF
48 agraphia 10.6 GRN MAPT TARDBP
49 amyotrophic lateral sclerosis type 6 10.6 ALS2 TARDBP
50 ideomotor apraxia 10.6 GRN MAPT 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:


myoclonus, hemiplegia, muscular fasciculation, ataxia

MGI Mouse Phenotypes related to Motor Neuron Disease:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.41 SLC1A2 SMN2 SOD1 SOD2 SQSTM1 TARDBP
2 cellular MP:0005384 10.34 AR BSCL2 CNTF DCTN1 GRN MAPT
3 homeostasis/metabolism MP:0005376 10.31 SOD2 SQSTM1 TARDBP SLC1A2 SMN2 SOD1
4 growth/size/body region MP:0005378 10.29 ALS2 AR BSCL2 HEXA MAPT NEK1
5 hematopoietic system MP:0005397 10.23 BSCL2 CNTF DCTN1 GRN MAPT NEK1
6 immune system MP:0005387 10.18 ALS2 AR BSCL2 CNTF DCTN1 GRN
7 mortality/aging MP:0010768 10.13 ALS2 AR BSCL2 DCTN1 GRN HEXA
8 integument MP:0010771 10.02 AR BSCL2 MAPT NEK1 SMN2 SOD1
9 nervous system MP:0003631 9.89 ALS2 AR CNTF DCTN1 GRN HEXA
10 liver/biliary system MP:0005370 9.87 AR BSCL2 GRN HEXA SOD1 SOD2
11 muscle MP:0005369 9.81 ALS2 AR CNTF MAPT SMN2 SOD1
12 skeleton MP:0005390 9.28 AR DCTN1 HEXA NEK1 SMN2 SOD1

Drugs & Therapeutics for Motor Neuron Disease

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

(show top 50) (show all 316)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 1744-22-5 5070
2
Mexiletine Approved, Investigational Phase 4,Phase 2 31828-71-4 4178
3
Goserelin Approved Phase 4 65807-02-5 5311128 47725
4 Anticonvulsants Phase 4,Phase 2,Phase 3,Phase 1
5 Excitatory Amino Acid Antagonists Phase 4,Phase 2,Phase 3,Phase 1
6 Excitatory Amino Acids Phase 4,Phase 2,Phase 3,Phase 1
7 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1
8 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
9 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1
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
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
18
Pramipexole Approved, Investigational Phase 3,Phase 2,Phase 1 104632-26-0 119570 59868
19
Memantine Approved, Investigational Phase 2, Phase 3 19982-08-2 4054
20
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
21
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
22
Antipyrine Approved, Investigational Phase 3,Phase 1,Phase 2 60-80-0 2206
23
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 5460373 44475014 11953898
24
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
25
Minocycline Approved, Investigational Phase 3,Phase 2 10118-90-8 5281021
26
Zinc Approved, Investigational Phase 3,Phase 1,Phase 2 7440-66-6 32051 23994
27
Dextromethorphan Approved Phase 3,Phase 2 125-71-3 5362449 5360696
28
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Phase 2 93-14-1 3516
29
Quinidine Approved, Investigational Phase 3,Phase 2 56-54-2 441074
30
Citalopram Approved Phase 3 59729-33-8 2771
31
4-Aminopyridine Approved Phase 2, Phase 3,Phase 1 504-24-5 1727
32
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
33
Iron Approved Phase 2, Phase 3 7439-89-6 23925
34
Creatine Approved, Investigational, Nutraceutical Phase 3,Phase 2 57-00-1 586
35
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 2, 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
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 1
44 Central Nervous System Depressants Phase 2, Phase 3, Phase 1
45 Gastrointestinal Agents Phase 2, Phase 3,Phase 1
46 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3, Early Phase 1
47 Peripheral Nervous System Agents Phase 2, Phase 3, Phase 1, Early Phase 1
48 Psychotropic Drugs Phase 2, Phase 3, Phase 1, Early Phase 1
49
Serotonin Phase 2, Phase 3, Early Phase 1 50-67-9 5202
50 Serotonin Agents Phase 2, Phase 3, Early Phase 1

Interventional clinical trials:

(show top 50) (show all 514)

# 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 Safety and Efficacy of Repeated Administrations of NurOwn® in ALS Patients Recruiting NCT03280056 Phase 3
43 Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Recruiting NCT03306277 Phase 3
44 Investigate Safety, Tolerability, PK, PD and Efficacy of RO7034067 in Infants With Type1 Spinal Muscular Atrophy Recruiting NCT02913482 Phase 2, Phase 3 RO7034067
45 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
46 A Study for Patients Who Completed VITALITY-ALS (CY 4031) Active, not recruiting NCT02936635 Phase 3 tirasemtiv
47 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
48 Conservative Iron Chelation as a Disease-modifying Strategy in Amyotrophic Lateral Sclerosis Not yet recruiting NCT03293069 Phase 2, Phase 3 Deferiprone;Placebo Oral Tablet
49 Phase 3 Study to Compare the Efficacy and Safety of Masitinib Versus Placebo in the Treatment of ALS Patients Not yet recruiting NCT03127267 Phase 3 Masitinib Mesylate;Riluzole 50Mg Tablet;Placebo Oral Tablet
50 Phase 3 Extension Study of Dexpramipexole in ALS 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

Anatomical Context for Motor Neuron Disease

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

18
The Motor Neurones

MalaCards organs/tissues related to Motor Neuron Disease:

38
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 799)
# Title Authors Year
1
Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy. ( 29348544 )
2018
2
Motor neuron disease: Positive trial results published for ground-breaking SMA therapies. ( 29146955 )
2018
3
Pragmatic approach to muscle MRI biomarkers in motor neuron disease. ( 29142141 )
2018
4
Downbeat nystagmus and lower motor neuron disease: 14A years follow-up. ( 29396677 )
2018
5
Treatment of fatigue in amyotrophic lateral sclerosis/motor neuron disease. ( 29293261 )
2018
6
Imaging muscle as a potential biomarker of denervation in motor neuron disease. ( 29089397 )
2018
7
Atypical lower motor neuron disease with enlargement of Nissl substance: Report of an autopsy case. ( 29350170 )
2018
8
Motor neuron disease in 2017: Progress towards therapy in motor neuron disease. ( 29348545 )
2018
9
Mercury and Motor Neuron Disease: Hooked on a Hypothesis. ( 29443385 )
2018
10
Motor neuron disease mortality rates in New Zealand 1992-2013. ( 29382218 )
2018
11
Supportive care needs of patients with amyotrophic lateral sclerosis/motor neuron disease and their caregivers: AA scoping review. ( 28681543 )
2017
12
Hereditary spastic paraplegia: More than an upper motor neuron disease. ( 28449883 )
2017
13
Motor neuron disease in inherited neurometabolic disorders. ( 29128155 )
2017
14
Nocebo in motor neuron disease: systematic review and meta-analysis of placebo-controlled clinical trials. ( 28593798 )
2017
15
Therapeutic opportunities and challenges of induced pluripotent stem cells-derived motor neurons for treatment of amyotrophic lateral sclerosis and motor neuron disease. ( 28616022 )
2017
16
Decremental responses in patients with motor neuron disease. ( 29201547 )
2017
17
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
18
Motor neuron disease in patients with HIV infection. ( 28894036 )
2017
19
Gamma aminobutyric acid (GABA) modulators for amyotrophic lateral sclerosis/motor neuron disease. ( 28067943 )
2017
20
The development of neurology palliative care service for motor neuron disease (MND) patients: Hong Kong experience. ( 29156906 )
2017
21
Motor Neuron Disease Presenting With Acute Respiratory Failure: A Case Study. ( 28503469 )
2017
22
Voltage-Gated Potassium Channel Antibodies in Slow-Progression Motor Neuron Disease. ( 27710962 )
2017
23
Pigment retinopathy in warmblood horses with equine degenerative myeloencephalopathy and equine motor neuron disease. ( 29105975 )
2017
24
Symptomatic treatments for amyotrophic lateral sclerosis/motor neuron disease. ( 28072907 )
2017
25
Camptocormia as presenting in lower motor neuron disease with TARDBP mutation: case report. ( 28573484 )
2017
26
The emerging picture of ALS: a multisystem, not only a "motor neuron disease. ( 29405027 )
2017
27
Self-care in People With Motor Neuron Disease: An Integrative Review. ( 28817497 )
2017
28
Gut inflammation and dysbiosis in human motor neuron disease. ( 28947596 )
2017
29
Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant. ( 28579206 )
2017
30
Clinical profile of motor neuron disease patients with lower urinary tract symptoms and neurogenic bladder. ( 28566149 )
2017
31
Jaw clonus in motor neuron disease: an interesting case and review of literature. ( 29238910 )
2017
32
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
33
Diagnostic contribution of magnetic resonance imaging in an atypical presentation of motor neuron disease. ( 29312877 )
2017
34
Corrigendum to "Genetic epidemiology of motor neuron disease-associated variants in the Scottish population." [Neurobiol. Aging 51 (2017) 178.e11-178.e20]. ( 28606583 )
2017
35
Cerebrospinal fluid neurofilament light concentration in motor neuron disease and frontotemporal dementia predicts survival. ( 28631955 )
2017
36
Motor neuron disease: Brain-computer interface unlocks the mind of a patient with ALS. ( 27909307 )
2017
37
Radiation-induced tongue myokymia with hypoglossal nerve damage, mimicker of motor neuron disease. ( 28588874 )
2017
38
Bimelic symmetric Hirayama disease: Spectrum of magnetic resonance imaging findings and comparative evaluation with classical monomelic amyotrophy and other motor neuron disease. ( 29114369 )
2017
39
Farming and incidence of motor neuron disease: French nationwide study. ( 28727213 )
2017
40
Amygdala TDP-43 Pathology in Frontotemporal Lobar Degeneration and Motor Neuron Disease. ( 28859337 )
2017
41
Risk factors for respiratory failure of motor neuron disease in a multiracial Asian population. ( 28089419 )
2017
42
The death wish and motor neuron disease! The chameleons and new research optimism. ( 28084230 )
2017
43
Message banking: Perceptions of persons with motor neuron disease, significant others and clinicians. ( 28756688 )
2017
44
Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease. ( 28500227 )
2017
45
Beyond weakness: Characterization of pain, sensory profile and conditioned pain modulation in patients with motor neuron disease: A controlled study. ( 28833988 )
2017
46
Withdrawal of invasive ventilation in a patient with motor neurone disease and total locked-in syndrome. ( 28428229 )
2017
47
Comments on "Camptocormia as presenting in lower motor neuron disease with TARDBP mutation: case report". ( 28710721 )
2017
48
Structural and functional brain signatures of C9orf72 in motor neuron disease. ( 28666709 )
2017
49
Does advance care planning improve the quality of life of patients with motor neuron disease? ( 29102531 )
2017
50
Longitudinal Diffusion-Weighted Whole-Body MRI Demonstrates Dynamic Changes in Muscle Integrity in Motor Neuron Disease. ( 29278900 )
2017

Variations for Motor Neuron Disease

ClinVar genetic disease variations for Motor Neuron Disease:

6
# 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.302A> G (p.Glu101Gly) single nucleotide variant Pathogenic rs121912439 GRCh37 Chromosome 21, 33039633: 33039633
3 SOD1 NM_000454.4(SOD1): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs121912437 GRCh37 Chromosome 21, 33039611: 33039611
4 SOD1 NM_000454.4(SOD1): c.341T> C (p.Ile114Thr) single nucleotide variant Pathogenic rs121912441 GRCh37 Chromosome 21, 33039672: 33039672
5 TARDBP NM_007375.3(TARDBP): c.1043G> T (p.Gly348Val) single nucleotide variant Pathogenic rs1131690782 GRCh37 Chromosome 1, 11082509: 11082509
6 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant Pathogenic rs1049502301 GRCh38 Chromosome 4, 169602007: 169602007

Expression for Motor Neuron Disease

Search GEO for disease gene expression data for Motor Neuron Disease.

Pathways for Motor Neuron Disease

Pathways related to Motor Neuron Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.63 DCTN1 MAPT NEFH SLC1A2 SOD1 TARDBP
2
Show member pathways
11.37 DCTN1 INA NEFH
3
Show member pathways
11.31 ALS2 NEFH SLC1A2 SOD1

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 perikaryon GO:0043204 9.69 NAIP SMN1 SMN2
2 neuron projection GO:0043005 9.65 ALS2 NAIP SMN1 SMN2 SOD1
3 axon GO:0030424 9.55 ALS2 CNTF MAPT NEFH SLC1A2
4 SMN-Sm protein complex GO:0034719 9.49 SMN1 SMN2
5 axolemma GO:0030673 9.48 MAPT SLC1A2
6 SMN complex GO:0032797 9.43 SMN1 SMN2
7 Gemini of coiled bodies GO:0097504 9.4 SMN1 SMN2
8 neurofilament GO:0005883 9.37 INA NEFH
9 neurofibrillary tangle GO:0097418 9.32 MAPT NEFH
10 cytoplasmic ribonucleoprotein granule GO:0036464 9.26 INA MAPT SMN1 SMN2
11 myelin sheath GO:0043209 9.02 INA NEFH SOD1 SOD2 VCP
12 cytoplasm GO:0005737 10.3 ALS2 AR CNTF DCTN1 MAPT NAIP

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.63 ALS2 SOD1 SOD2
2 negative regulation of neuron apoptotic process GO:0043524 9.56 CNTF NAIP SOD1 SOD2
3 positive regulation of microtubule polymerization GO:0031116 9.54 DCTN1 MAPT
4 intermediate filament cytoskeleton organization GO:0045104 9.52 INA NEFH
5 superoxide anion generation GO:0042554 9.51 SOD1 SOD2
6 nervous system development GO:0007399 9.5 CNTF DCTN1 INA NAIP SLC1A2 SMN1
7 removal of superoxide radicals GO:0019430 9.49 SOD1 SOD2
8 positive regulation of superoxide anion generation GO:0032930 9.48 MAPT SOD1
9 DNA-templated transcription, termination GO:0006353 9.43 SMN1 SMN2
10 hydrogen peroxide biosynthetic process GO:0050665 9.4 SOD1 SOD2
11 astrocyte activation GO:0048143 9.37 CNTF MAPT
12 response to axon injury GO:0048678 9.33 NAIP SOD1 SOD2
13 response to superoxide GO:0000303 9.32 SOD1 SOD2
14 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 enzyme binding GO:0019899 9.35 AR MAPT SOD1 SOD2 SQSTM1
2 identical protein binding GO:0042802 9.23 MAPT SMN1 SMN2 SOD1 SOD2 SQSTM1
3 superoxide dismutase activity GO:0004784 9.16 SOD1 SOD2
4 protein binding GO:0005515 10.19 ALS2 AR BSCL2 CNTF DCTN1 GRN

Sources for Motor Neuron Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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