MCID: LTR001
MIFTS: 58

Lateral Sclerosis

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Lateral Sclerosis

MalaCards integrated aliases for Lateral Sclerosis:

Name: Lateral Sclerosis 12 14 69
Primary Lateral Sclerosis 12 72 49 50 51
Adult-Onset Primary Lateral Sclerosis 12 49
Motor Neuron Disease 41 69
Adult-Onset Pls 49

Classifications:



External Ids:

Disease Ontology 12 DOID:230
ICD10 32 G12.29
ICD9CM 34 335.24
MeSH 41 D016472
SNOMED-CT 64 81211007
UMLS 69 C0154682

Summaries for Lateral Sclerosis

NINDS : 50 Primary lateral sclerosis (PLS) is a rare neuromuscular disease with slowly progressive weakness in voluntary muscle movement. PLS belongs to a group of disorders known as motor neuron diseases. PLS affects the upper motor neurons (also called corticospinal neurons) in the arms, legs, and face.  It occurs when nerve cells in the motor regions of the cerebral cortex (the thin layer of cells covering the brain which is responsible for most higher level mental functions) gradually degenerate, causing movements to be slow and effortful.  The disorder often affects the legs first, followed by the body, trunk, arms and hands, and, finally the bulbar muscles (muscles that control speech, swallowing, and chewing).  Symptoms include weakness, muscle stiffness and spasticity, clumsiness, slowing of movement, and problems with balance and speech. PLS is more common in men than in women, with a varied gradual onset that generally occurs between ages 40 and 60. PLS progresses gradually over a number of years, or even decades. Scientists do not believe PLS has a simple hereditary cause.  The diagnosis of PLS requires extensive testing to exclude other diseases. When symptoms begin, PLS may be mistaken for amyotrophic lateral sclerosis (ALS) or spastic paraplegia.  Most neurologists follow an affected individual's clinical course for at least 3 to 4 years before making a diagnosis of PLS.

MalaCards based summary : Lateral Sclerosis, also known as primary lateral sclerosis, is related to amyotrophic lateral sclerosis 2, juvenile and amyotrophic lateral sclerosis 4, juvenile, and has symptoms including myoclonus, hemiplegia and muscular fasciculation. An important gene associated with Lateral Sclerosis is SOD1 (Superoxide Dismutase 1), and among its related pathways/superpathways are Neuroscience and Amyotrophic lateral sclerosis (ALS). The drugs Riluzole and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and testes, and related phenotypes are behavior/neurological and nervous system

Disease Ontology : 12 A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.

NIH Rare Diseases : 49 Primary lateral sclerosis (PLS) is a rare neuromuscular disease that affects the nerve cells that control the voluntary muscles. Problems in the legs (such as weakness, stiffness, spasticity, and balance problems) are often observed first, but hand clumsiness and changes in speech can be early symptoms, as well. The condition is progressive (gradually becomes worse over time); however, affected people have a normal life expectancy. The underlying cause of adult PLS is currently unknown. In most cases, it occurs sporadically in people with no family history of the condition. A subtype of PLS, called juvenile PLS, is caused by changes (mutations) in the ALS2 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. Last updated: 4/14/2017

Wikipedia : 72 Primary lateral sclerosis (PLS) is a rare neuromuscular disease characterized by progressive muscle... more...

Related Diseases for Lateral Sclerosis

Diseases in the Lateral Sclerosis family:

Primary Lateral Sclerosis, Juvenile Primary Lateral Sclerosis, Adult, 1

Diseases related to Lateral Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 252)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 2, juvenile 34.7 ALS2 ALS2CR12 SOD1
2 amyotrophic lateral sclerosis 4, juvenile 34.6 ALS2 SETX
3 amyotrophic lateral sclerosis type 6 34.6 ALS2 FUS SETX TARDBP
4 amyotrophic lateral sclerosis 16, juvenile 34.5 ALS2 SIGMAR1 SOD1
5 amyotrophic lateral sclerosis 18 34.4 C9orf72 FUS SOD1 TARDBP
6 juvenile amyotrophic lateral sclerosis 34.4 ALS2 FUS SETX SIGMAR1
7 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 34.3 ATXN2 C9orf72 CHCHD10 FUS TARDBP UBQLN2
8 amyotrophic lateral sclerosis type 14 34.1 FUS TARDBP UBQLN2 VAPB VCP
9 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 34.1 ALS2 ANG FIG4 FUS SETX TARDBP
10 amyotrophic lateral sclerosis 11 34.1 ALS2 ANG FIG4 FUS SETX TARDBP
11 amyotrophic lateral sclerosis 9 34.1 ALS2 ANG FIG4 FUS SETX TARDBP
12 amyotrophic lateral sclerosis 21 34.1 C9orf72 FUS SETX SOD1 TARDBP VAPB
13 amyotrophic lateral sclerosis 7 34.0 ALS2 ANG FIG4 FUS SETX TARDBP
14 frontotemporal dementia 32.9 C9orf72 CHCHD10 FUS HNRNPA1 NEFH SOD1
15 amyotrophic lateral sclerosis 1 32.8 ALS2 ANG ATXN2 C9orf72 CHCHD10 DCTN1
16 progressive muscular atrophy 32.6 C9orf72 TARDBP
17 nervous system disease 32.0 C9orf72 FUS SOD1 TARDBP
18 perry syndrome 32.0 C9orf72 DCTN1 TARDBP
19 motor neuron disease 31.9 ALS2 C9orf72 CHCHD10 DCTN1 FUS GRIA2
20 dementia 31.3 C9orf72 CHCHD10 FUS HNRNPA1 TARDBP UBQLN2
21 spinal muscular atrophy 30.7 CHCHD10 HNRNPA1 SIGMAR1 VAPB
22 progressive non-fluent aphasia 30.2 C9orf72 VCP
23 primary lateral sclerosis, juvenile 12.5
24 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 12.5
25 amyotrophic lateral sclerosis 8 12.5
26 amyotrophic lateral sclerosis 19 12.5
27 primary lateral sclerosis, adult, 1 12.4
28 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 12.4
29 amyotrophic lateral sclerosis 17 12.4
30 amyotrophic lateral sclerosis 12 12.4
31 amyotrophic lateral sclerosis 20 12.4
32 amyotrophic lateral sclerosis type 5 12.4
33 amyotrophic lateral sclerosis 3 12.4
34 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 12.4
35 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 12.4
36 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia 12.3
37 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 12.3
38 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 12.3
39 amyotrophic lateral sclerosis 5, juvenile 12.3
40 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 12.3
41 amyotrophic lateral sclerosis type 15 12.3
42 amyotrophic lateral sclerosis, juvenile, with dementia 12.3
43 amyotrophic lateral sclerosis type 22 12.2
44 c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia 12.1
45 tardbp-related amyotrophic lateral sclerosis 12.1
46 amyotrophic lateral sclerosis 23 12.0
47 spinocerebellar ataxia 2 12.0
48 amyotrophic lateral sclerosis with polyglucosan bodies 12.0
49 parkinson disease 7, autosomal recessive early-onset 11.5
50 mills syndrome 11.3

Graphical network of the top 20 diseases related to Lateral Sclerosis:



Diseases related to Lateral Sclerosis

Symptoms & Phenotypes for Lateral Sclerosis

UMLS symptoms related to Lateral Sclerosis:


myoclonus, hemiplegia, muscular fasciculation, ataxia

MGI Mouse Phenotypes related to Lateral Sclerosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 TARDBP VAPB VCP ALS2 ATXN2 C9orf72
2 nervous system MP:0003631 9.36 SOD1 TARDBP VAPB VCP ALS2 ATXN2

Drugs & Therapeutics for Lateral Sclerosis

Drugs for Lateral Sclerosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 304)
# 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
Armodafinil Approved, Investigational Phase 4 112111-43-0
4
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
5 Anticonvulsants Phase 4,Phase 2,Phase 3,Phase 1
6 Excitatory Amino Acid Antagonists Phase 4,Phase 2,Phase 3,Phase 1
7 Excitatory Amino Acids Phase 4,Phase 2,Phase 3,Phase 1
8 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
10 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Anti-Arrhythmia Agents Phase 4,Phase 3,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 Central Nervous System Stimulants Phase 4,Phase 1
15 Cytochrome P-450 CYP3A Inducers Phase 4
16 Wakefulness-Promoting Agents Phase 4
17
Olanzapine Approved, Investigational Phase 2, Phase 3 132539-06-1 4585
18
Antipyrine Approved, Investigational Phase 3,Phase 1,Phase 2 60-80-0 2206
19
Dopamine Approved Phase 2, Phase 3, Phase 1 51-61-6, 62-31-7 681
20
Memantine Approved, Investigational Phase 2, Phase 3 19982-08-2 4054
21
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 5460373 44475014 11953898
22
Zinc Approved, Investigational Phase 3,Phase 1,Phase 2 7440-66-6 32051 23994
23
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
24
Pramipexole Approved, Investigational Phase 3,Phase 1,Phase 2 104632-26-0 119570 59868
25
Minocycline Approved, Investigational Phase 3,Phase 2 10118-90-8 5281021
26
Valproic Acid Approved, Investigational Phase 3,Phase 2 99-66-1 3121
27
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
28
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
29
Dextromethorphan Approved Phase 3,Phase 2 125-71-3 5362449 5360696
30
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Phase 2 93-14-1 3516
31
Quinidine Approved, Investigational Phase 3,Phase 2 56-54-2 441074
32
Citalopram Approved Phase 3 59729-33-8 2771
33
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
34
Iron Approved Phase 2, Phase 3 7439-89-6 23925
35
Creatine Approved, Investigational, Nutraceutical Phase 3,Phase 2 57-00-1 586
36
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 2, Phase 3 13422-55-4
37
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
38
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
39 Tocopherol Approved, Investigational, Nutraceutical Phase 3
40
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
41
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3,Phase 2 303-98-0 5281915
42 Antiemetics Phase 2, Phase 3
43 Antipsychotic Agents Phase 2, Phase 3
44 Autonomic Agents Phase 2, Phase 3, Phase 1
45 Central Nervous System Depressants Phase 2, Phase 3, Phase 1
46 Gastrointestinal Agents Phase 2, Phase 3,Phase 1
47 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3, Early Phase 1
48 Peripheral Nervous System Agents Phase 2, Phase 3, Phase 1, Early Phase 1
49 Psychotropic Drugs Phase 2, Phase 3, Phase 1, Early Phase 1
50
Serotonin Phase 2, Phase 3, Early Phase 1 50-67-9 5202

Interventional clinical trials:

(show top 50) (show all 440)

# Name Status NCT ID Phase Drugs
1 Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis Unknown status NCT00560287 Phase 4
2 CARE Canadian ALS Riluzole Evaluation Completed NCT00542412 Phase 4 Riluzole
3 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
4 Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS) Completed NCT00613899 Phase 4
5 Modafinil for Treatment of Fatigue in ALS Patients Completed NCT00614926 Phase 4 Modafinil;Placebo
6 MP Diagnostics HTLV Blot 2.4 Post-Market Clinical Study Active, not recruiting NCT03226119 Phase 4
7 Olanzapine for the Treatment of Appetite Loss in Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00876772 Phase 2, Phase 3 Olanzapine
8 Study of Creatine Monohydrate in Patients With Amyotrophic Lateral Sclerosis Unknown status NCT00069186 Phase 3 Creatine Monohydrate
9 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
10 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
11 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
12 Memantine for Disability in Amyotrophic Lateral Sclerosis (MEDALS) Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;Placebo
13 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);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 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
16 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Trial Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
17 Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Completed NCT00330681 Phase 3 MCI-186;Placebo of MCI-186
18 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
19 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
20 The Effect of GCSF in the Treatment of ALS Patients Completed NCT01825551 Phase 2, Phase 3 Granulocyte Colony Stimulating Factor;Placebo
21 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
22 Phase 3 Study of Dexpramipexole in ALS Completed NCT01281189 Phase 3 Dexpramipexole;Placebo
23 Repetitive Transcranial Magnetic Stimulation (rTMS) in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
24 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
25 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
26 Clinical Trial of Vitamin E to Treat Muscular Cramps in Patients With ALS Completed NCT00372879 Phase 3
27 Trial of Sodium Valproate in Amyotrophic Lateral Sclerosis Completed NCT00136110 Phase 3 Sodium Valproate
28 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)
29 Clinical Trial Ceftriaxone in Subjects With ALS Completed NCT00349622 Phase 3 ceftriaxone
30 Safety Extension Study of TRO19622 in ALS Completed NCT01285583 Phase 2, Phase 3 TRO19622
31 Ventilatory Investigation of Tirasemtiv and Assessment of Longitudinal Indices After Treatment for a Year Completed NCT02496767 Phase 3 tirasemtiv;Placebo tablets
32 Safety/Efficacy of AVP-923 in the Treatment of Emotional Lability (Uncontrolled Crying & Laughing) in Patients With ALS Completed NCT00021697 Phase 3 AVP-923
33 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
34 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
35 Escitalopram (Lexapro) for Depression MS or ALS Completed NCT00965497 Phase 3 escitalopram
36 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
37 Efficacy and Safety Study of MYOBLOC® Followed by Open-Label Multiple-Treatment With MYOBLOC® in the Treatment of Troublesome Sialorrhea in Adult Subjects Completed NCT01994109 Phase 3 MYOBLOC
38 Safety and Efficacy of Repeated Administrations of NurOwn® in ALS Patients Recruiting NCT03280056 Phase 3
39 A Study for Patients Who Completed VITALITY-ALS (CY 4031) Active, not recruiting NCT02936635 Phase 3 tirasemtiv
40 Efficacy of Riluzole in Surgical Treatment for Cervical Spondylotic Myelopathy (CSM-Protect) Active, not recruiting NCT01257828 Phase 3 riluzole;Placebo medication
41 Conservative Iron Chelation as a Disease-modifying Strategy in Amyotrophic Lateral Sclerosis Not yet recruiting NCT03293069 Phase 2, Phase 3 Deferiprone;Placebo Oral Tablet
42 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
43 Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL) Not yet recruiting NCT03347344 Phase 3 Riluzole;Placebo
44 Study to Investigate the Safety and Efficacy of Lithium in Volunteers With Amyotrophic Lateral Sclerosis (ALS) Terminated NCT00818389 Phase 2, Phase 3 Lithium Carbonate;Riluzole;placebo
45 Phase 3 Extension Study of Dexpramipexole in ALS Terminated NCT01622088 Phase 3 Dexpramipexole
46 Early Stage Amyotrophic Lateral Sclerosis Phrenic Stimulation Terminated NCT01583088 Phase 3
47 Safety and Tolerability of the Ketogenic Diet in Amyotrophic Lateral Sclerosis (ALS) Terminated NCT01016522 Phase 3
48 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
49 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3 Riluzole
50 Dose Escalation and Safety Study of Human Spinal Cord Derived Neural Stem Cell Transplantation for the Treatment of Amyotrophic Lateral Sclerosis Unknown status NCT01730716 Phase 2

Search NIH Clinical Center for Lateral Sclerosis

Cochrane evidence based reviews: motor neuron disease

Genetic Tests for Lateral Sclerosis

Anatomical Context for Lateral Sclerosis

MalaCards organs/tissues related to Lateral Sclerosis:

38
Brain, Spinal Cord, Testes, Bone, Cortex, Bone Marrow, Skin

Publications for Lateral Sclerosis

Articles related to Lateral Sclerosis:

(show top 50) (show all 2371)
# Title Authors Year
1
Lack of an association between attention-deficit/hyperactivity disorder (ADHD) and amyotrophic lateral sclerosis (ALS). ( 29406917 )
2018
2
Amyotrophic Lateral Sclerosis Associated with Statin Use: A Disproportionality Analysis of the FDA's Adverse Event Reporting System. ( 29427042 )
2018
3
Amyotrophic Lateral Sclerosis after Receiving the Human Papilloma Virus Vaccine: A Case Report of a 15-year-old Girl. ( 29434138 )
2018
4
Molecular mechanisms underlying the impact of mutations in SOD1 on its conformational properties associated with amyotrophic lateral sclerosis as revealed with molecular modelling. ( 29431095 )
2018
5
Crush injury to motor nerves in the G93A transgenic mouse model of amyotrophic lateral sclerosis promotes muscle reinnervation and survival of functionally intact nerve-muscle contacts. ( 29409912 )
2018
6
Treatment of fatigue in amyotrophic lateral sclerosis/motor neuron disease. ( 29293261 )
2018
7
Interleukin 4 modulates microglia homeostasis and attenuates the early slowly progressive phase of amyotrophic lateral sclerosis. ( 29445154 )
2018
8
Prion-like properties of disease-relevant proteins in amyotrophic lateral sclerosis. ( 29417336 )
2018
9
A Metadata Analysis of Oxidative Stress Etiology in Preclinical Amyotrophic Lateral Sclerosis: Benefits of Antioxidant Therapy. ( 29416499 )
2018
10
Biomarkers of Amyotrophic Lateral Sclerosis: Current Status and Interest of Oxysterols and Phytosterols. ( 29445325 )
2018
11
Therapeutic effects of percutaneous endoscopic gastrostomy on survival in patients with amyotrophic lateral sclerosis: A meta-analysis. ( 29408898 )
2018
12
Using an onset-anchored Bayesian hierarchical model to improve predictions for amyotrophic lateral sclerosis disease progression. ( 29409450 )
2018
13
Transcriptomics in amyotrophic lateral sclerosis. ( 28930607 )
2018
14
Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases. ( 29400682 )
2018
15
Arginase-1 expressing microglia in close proximity to motor neurons were increased early in disease progression in canine degenerative myelopathy, a model of amyotrophic lateral sclerosis. ( 29408267 )
2018
16
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2. ( 29428949 )
2018
17
Motor and extra-motor gray matter integrity may underlie neurophysiologic parameters of motor function in amyotrophic lateral sclerosis: a combined voxel-based morphometry and transcranial stimulation study. ( 29417490 )
2018
18
ERp57 is protective against mutant SOD1-induced cellular pathology in Amyotrophic Lateral Sclerosis. ( 29409023 )
2018
19
Exploring the cause of aggregation and reduced Zn binding affinity by G85R mutation in SOD1 rendering amyotrophic lateral sclerosis. ( 28321933 )
2017
20
Degeneration of serotonin neurons triggers spasticity in amyotrophic lateral sclerosis. ( 28856708 )
2017
21
Hypermetabolism is a deleterious prognostic factor in patients with amyotrophic lateral sclerosis. ( 28940704 )
2017
22
Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis. ( 28628244 )
2017
23
Supportive care needs of patients with amyotrophic lateral sclerosis/motor neuron disease and their caregivers: AA scoping review. ( 28681543 )
2017
24
Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis. ( 27939697 )
2017
25
Visual encoding, consolidation, and retrieval in amyotrophic lateral sclerosis: executive function as a mediator, and predictor of performance. ( 28084080 )
2017
26
Orofacial function and monitoring of oral care in amyotrophic lateral sclerosis. ( 28079403 )
2017
27
Amyotrophic Lateral Sclerosis: Precise Diagnosis and Individualized Treatment. ( 28937029 )
2017
28
Retinal thinning in amyotrophic lateral sclerosis patients without ophthalmic disease. ( 28945811 )
2017
29
A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro. ( 27534431 )
2017
30
CHCHD10 mutations in patients with amyotrophic lateral sclerosis in Mainland China. ( 28318595 )
2017
31
Therapeutic opportunities and challenges of induced pluripotent stem cells-derived motor neurons for treatment of amyotrophic lateral sclerosis and motor neuron disease. ( 28616022 )
2017
32
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. ( 28008748 )
2017
33
Association analysis of polymorphisms in VMAT2 and TMEM106B genes for Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy. ( 28477711 )
2017
34
Semantic dementia, progressive non-fluent aphasia and their association with amyotrophic lateral sclerosis. ( 28554960 )
2017
35
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. ( 28716533 )
2017
36
Longitudinal assessment of metal concentrations and copper isotope ratios in the G93A SOD1 mouse model of amyotrophic lateral sclerosis. ( 28067393 )
2017
37
DNA strand breaks and TDP-43 mislocation are absent in the murine hSOD1G93A model of amyotrophic lateral sclerosis in vivo and in vitro. ( 28832631 )
2017
38
Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. ( 27892983 )
2017
39
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. ( 28973528 )
2017
40
Region-specific impairment of the cervical spinal cord (SC) in amyotrophic lateral sclerosis: A preliminary study using SC templates and quantitative MRI (diffusion tensor imaging/inhomogeneous magnetization transfer). ( 28926131 )
2017
41
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation. ( 28822984 )
2017
42
Revisiting the concept of amyotrophic lateral sclerosis as a multisystems disorder of limited phenotypic expression. ( 28914734 )
2017
43
Gamma aminobutyric acid (GABA) modulators for amyotrophic lateral sclerosis/motor neuron disease. ( 28067943 )
2017
44
Percutaneous endoscopic gastrostomy, body weight loss and survival in amyotrophic lateral sclerosis: a population-based registry study. ( 28076984 )
2017
45
Enhanced Bulbar Function in Amyotrophic Lateral Sclerosis: The Nuedexta Treatment Trial. ( 28070747 )
2017
46
Early recurrence of Tako-Tsubo cardiomyopathy in an elderly woman with amyotrophic lateral sclerosis: different triggers inducing different apical ballooning patterns. ( 28079765 )
2017
47
Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS). ( 28454844 )
2017
48
Terminal latency abnormality in amyotrophic lateral sclerosis without split hand syndrome. ( 28188450 )
2017
49
Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with Amyotrophic Lateral Sclerosis in a Patient Developing Carbon Dioxide Narcosis. ( 28381746 )
2017
50
HuR promotes the molecular signature and phenotype of activated microglia: Implications for amyotrophic lateral sclerosis and other neurodegenerative diseases. ( 28300326 )
2017

Variations for Lateral Sclerosis

ClinVar genetic disease variations for Lateral Sclerosis:

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 Lateral Sclerosis

Search GEO for disease gene expression data for Lateral Sclerosis.

Pathways for Lateral Sclerosis

Pathways related to Lateral Sclerosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.63 DCTN1 GRIA2 NEFH SIGMAR1 SOD1 TARDBP
2
Show member pathways
11.31 ALS2 GRIA2 NEFH SOD1

GO Terms for Lateral Sclerosis

Cellular components related to Lateral Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.72 ANG C9orf72 SIGMAR1 SOD1 UBQLN2
2 dendritic spine GO:0043197 9.43 ALS2 FUS GRIA2
3 lipid droplet GO:0005811 9.13 FIG4 SIGMAR1 VCP
4 growth cone GO:0030426 8.92 ALS2 ANG SETX SIGMAR1
5 cytoplasm GO:0005737 10 ALS2 ALS2CR12 ATXN2 C9orf72 DCTN1 FUS

Biological processes related to Lateral Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.33 ALS2 FIG4 SOD1
2 synaptic transmission, glutamatergic GO:0035249 9.32 ALS2 GRIA2
3 regulation of autophagosome assembly GO:2000785 9.26 C9orf72 UBQLN2
4 stress granule assembly GO:0034063 8.96 ATXN2 C9orf72
5 neurofilament cytoskeleton organization GO:0060052 8.62 NEFH SOD1

Molecular functions related to Lateral Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein complex binding GO:0070840 8.62 DCTN1 NEFH

Sources for Lateral Sclerosis

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
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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