MCID: LTR001
MIFTS: 53

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 50 51 52
Adult-Onset Primary Lateral Sclerosis 12 50
Motor Neuron Disease 42 69
Adult-Onset Pls 50

Classifications:



External Ids:

Disease Ontology 12 DOID:230
ICD10 33 G12.29
ICD9CM 35 335.24
MeSH 42 D016472
SNOMED-CT 64 81211007
UMLS 69 C0154682

Summaries for Lateral Sclerosis

NINDS : 51 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 primary lateral sclerosis, juvenile and perry syndrome, and has symptoms including ataxia, muscular fasciculation and hemiplegia. 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

NIH Rare Diseases : 50 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

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

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 243)
id Related Disease Score Top Affiliating Genes
1 primary lateral sclerosis, juvenile 34.7 ALS2 SOD1
2 perry syndrome 32.3 C9orf72 DCTN1 TARDBP
3 progressive bulbar palsy 32.2 C9orf72 CHCHD10 FUS TARDBP UBQLN2 VCP
4 amyotrophic lateral sclerosis 1 12.5
5 amyotrophic lateral sclerosis 8 12.4
6 amyotrophic lateral sclerosis-parkinsonism/dementia complex 12.4
7 amyotrophic lateral sclerosis 4, juvenile 12.3
8 amyotrophic lateral sclerosis 2, juvenile 12.3
9 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 12.3
10 amyotrophic lateral sclerosis 9 12.3
11 amyotrophic lateral sclerosis 11 12.3
12 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 12.3
13 juvenile amyotrophic lateral sclerosis 12.3
14 amyotrophic lateral sclerosis 17 12.3
15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 12.2
16 amyotrophic lateral sclerosis 16, juvenile 12.2
17 amyotrophic lateral sclerosis 18 12.2
18 amyotrophic lateral sclerosis 12 12.2
19 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 12.2
20 amyotrophic lateral sclerosis 19 12.2
21 amyotrophic lateral sclerosis 20 12.2
22 amyotrophic lateral sclerosis type 5 12.2
23 amyotrophic lateral sclerosis 3 12.2
24 amyotrophic lateral sclerosis 7 12.2
25 amyotrophic lateral sclerosis type 10 12.2
26 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 12.2
27 amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 12.2
28 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 12.2
29 amyotrophic lateral sclerosis 21 12.2
30 primary lateral sclerosis, adult, 1 12.2
31 amyotrophic lateral sclerosis 10, with or without ftd 12.2
32 amyotrophic lateral sclerosis 5, juvenile 12.1
33 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 12.1
34 amyotrophic lateral sclerosis type 14 12.1
35 amyotrohpic lateral sclerosis type 22 12.1
36 juvenile amyotrophic lateral sclerosis with dementia 12.1
37 tardbp-related amyotrophic lateral sclerosis 12.1
38 c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia 12.0
39 sod1-related amyotrophic lateral sclerosis 12.0
40 autosomal recessive juvenile amyotrophic lateral sclerosis 12.0
41 pfn1-related amyotrophic lateral sclerosis 11.9
42 setx-related amyotrophic lateral sclerosis 11.9
43 sigmar1-related amyotrophic lateral sclerosis 11.9
44 spg11-related amyotrophic lateral sclerosis 11.9
45 sqstm1-related amyotrophic lateral sclerosis 11.9
46 ubqln2-related amyotrophic lateral sclerosis/frontotemporal dementia 11.9
47 vcp-related amyotrophic lateral sclerosis/frontotemporal dementia 11.9
48 erbb4-related amyotrophic lateral sclerosis 11.9
49 fig4-related amyotrophic lateral sclerosis 11.9
50 hnrnpa1-related amyotrophic lateral sclerosis 11.9

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:


ataxia, muscular fasciculation, hemiplegia, myoclonus

MGI Mouse Phenotypes related to Lateral Sclerosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 NEFH SIGMAR1 SOD1 TARDBP VAPB VCP
2 nervous system MP:0003631 9.36 ALS2 ATXN2 C9orf72 DCTN1 FIG4 GRIA2

Drugs & Therapeutics for Lateral Sclerosis

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

(show top 50) (show all 300)
id 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 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
Dopamine Approved Phase 2, Phase 3, Phase 1 51-61-6, 62-31-7 681
19
Memantine Approved, Investigational Phase 2, Phase 3 19982-08-2 4054
20
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 5460373 44475014
21
Antipyrine Approved Phase 3,Phase 1,Phase 2 60-80-0 2206
22
Zinc Approved Phase 3,Phase 1,Phase 2 7440-66-6 32051 23994
23
Lenograstim Approved Phase 2, Phase 3 135968-09-1
24
Minocycline Approved, Investigational Phase 3,Phase 2 10118-90-8 5281021
25
Pramipexole Approved, Investigational Phase 3,Phase 1,Phase 2 104632-26-0 59868 119570
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 5360696 5362449
30
Guaifenesin Approved, Vet_approved Phase 3,Phase 2 93-14-1 3516
31
Quinidine Approved 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
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
36
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
37 Tocopherol Approved, Nutraceutical Phase 3
38
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
39 Antiemetics Phase 2, Phase 3
40 Antipsychotic Agents Phase 2, Phase 3
41 Autonomic Agents Phase 2, Phase 3, Phase 1
42 Central Nervous System Depressants Phase 2, Phase 3, Phase 1
43 Gastrointestinal Agents Phase 2, Phase 3,Phase 1
44 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3, Early Phase 1
45 Peripheral Nervous System Agents Phase 2, Phase 3, Phase 1, Early Phase 1
46 Psychotropic Drugs Phase 2, Phase 3, Phase 1, Early Phase 1
47
Serotonin Phase 2, Phase 3, Early Phase 1 50-67-9 5202
48 Serotonin Agents Phase 2, Phase 3, Early Phase 1
49 Serotonin Uptake Inhibitors Phase 2, Phase 3, Early Phase 1
50 Tranquilizing Agents Phase 2, Phase 3, Phase 1

Interventional clinical trials:

(show top 50) (show all 424)

id 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 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
10 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
11 Memantine for Disability in Amyotrophic Lateral Sclerosis (MEDALS) Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;Placebo
12 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
13 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
14 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Trial Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;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 Phase II/III Randomized, Placebo-controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral Sclerosis Completed NCT00706147 Phase 2, Phase 3 Arimoclomol;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 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
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 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
25 Trial of Sodium Valproate in Amyotrophic Lateral Sclerosis Completed NCT00136110 Phase 3 Sodium Valproate
26 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
27 Clinical Trial of Vitamin E to Treat Muscular Cramps in Patients With ALS Completed NCT00372879 Phase 3
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 Safety/Efficacy of AVP-923 in the Treatment of Emotional Lability (Uncontrolled Crying & Laughing) in Patients With ALS Completed NCT00021697 Phase 3 AVP-923
32 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
33 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
34 Escitalopram (Lexapro) for Depression MS or ALS Completed NCT00965497 Phase 3 escitalopram
35 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
36 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
37 Safety and Efficacy of Repeated Administrations of NurOwn® in ALS Patients Recruiting NCT03280056 Phase 3
38 Ventilatory Investigation of Tirasemtiv and Assessment of Longitudinal Indices After Treatment for a Year Active, not recruiting NCT02496767 Phase 3 tirasemtiv;Placebo tablets
39 Efficacy of Riluzole in Surgical Treatment for Cervical Spondylotic Myelopathy (CSM-Protect) Active, not recruiting NCT01257828 Phase 3 riluzole;Placebo medication
40 A Study for Patients Who Completed VITALITY-ALS (CY 4031) Enrolling by invitation NCT02936635 Phase 3 tirasemtiv
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 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
44 Phase 3 Extension Study of Dexpramipexole in ALS Terminated NCT01622088 Phase 3 Dexpramipexole
45 Early Stage Amyotrophic Lateral Sclerosis Phrenic Stimulation Terminated NCT01583088 Phase 3
46 Safety and Tolerability of the Ketogenic Diet in Amyotrophic Lateral Sclerosis (ALS) Terminated NCT01016522 Phase 3
47 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
48 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3 Riluzole
49 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
50 Cistanche Total Glycosides for Amyotrophic Lateral Sclerosis: A Randomized Control Trial (RCT) Study Assessing Clinical Response Unknown status NCT00753571 Phase 2 Cistanche Total Glycosides

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:

39
Brain, Spinal Cord, Testes, Bone, Cortex, Bone Marrow, Skin

Publications for Lateral Sclerosis

Articles related to Lateral Sclerosis:

(show top 50) (show all 2316)
id Title Authors Year
1
Transcriptomics in amyotrophic lateral sclerosis. ( 28930607 )
2018
2
Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort. ( 28914354 )
2017
3
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia. ( 28334866 )
2017
4
Visual encoding, consolidation, and retrieval in amyotrophic lateral sclerosis: executive function as a mediator, and predictor of performance. ( 28084080 )
2017
5
Clinical Significance of TDP-43 Neuropathology in Amyotrophic Lateral Sclerosis. ( 28521037 )
2017
6
Analysis of C9orf72 repeat expansion in amyotrophic lateral sclerosis patients from North India. ( 28131227 )
2017
7
Exploring the cause of aggregation and reduced Zn binding affinity by G85R mutation in SOD1 rendering amyotrophic lateral sclerosis. ( 28321933 )
2017
8
Cysteine to Serine Conversion at 111th Position Renders the Disaggregation and Retains the Stabilization of Detrimental SOD1 A4V Mutant Against Amyotrophic Lateral Sclerosis in Human-A Discrete Molecular Dynamics Study. ( 28952073 )
2017
9
Absolute quantification of myosin heavy chain isoforms by selected reaction monitoring can underscore skeletal muscle changes in a mouse model of amyotrophic lateral sclerosis. ( 28078418 )
2017
10
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. ( 28716533 )
2017
11
Association analysis of polymorphisms in VMAT2 and TMEM106B genes for Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy. ( 28477711 )
2017
12
No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population. ( 28125704 )
2017
13
Association between C677T polymorphism of MTHFR gene and risk of amyotrophic lateral sclerosis: Polish population study and a meta-analysis. ( 28187987 )
2017
14
Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder. ( 28916614 )
2017
15
A misfolded dimer of Cu/Zn-superoxide dismutase leading to pathological oligomerization in amyotrophic lateral sclerosis. ( 27977888 )
2017
16
Supportive care needs of patients with amyotrophic lateral sclerosis/motor neuron disease and their caregivers: AA scoping review. ( 28681543 )
2017
17
Death wish in patients with amyotrophic lateral sclerosis. ( 28084231 )
2017
18
Therapeutic opportunities and challenges of induced pluripotent stem cells-derived motor neurons for treatment of amyotrophic lateral sclerosis and motor neuron disease. ( 28616022 )
2017
19
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. ( 28051077 )
2017
20
Revisiting the concept of amyotrophic lateral sclerosis as a multisystems disorder of limited phenotypic expression. ( 28914734 )
2017
21
Gamma aminobutyric acid (GABA) modulators for amyotrophic lateral sclerosis/motor neuron disease. ( 28067943 )
2017
22
Absence of association of the Ala58Val (rs17571) CTSD gene variant with Parkinson's disease or amyotrophic lateral sclerosis in a Han Chinese population. ( 28917980 )
2017
23
Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. ( 27892983 )
2017
24
Blood hemoglobin A1c levels and amyotrophic lateral sclerosis survival. ( 28934974 )
2017
25
Linking Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy through RNA-transcriptome homeostasis: a genomics perspective. ( 28054357 )
2017
26
Retinal thinning in amyotrophic lateral sclerosis patients without ophthalmic disease. ( 28945811 )
2017
27
Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum. ( 28087719 )
2017
28
Use of sugammadex in a patient with progressive muscular atrophy and in a patient with amyotrophic lateral sclerosis: Case report. ( 28591053 )
2017
29
Amyotrophic Lateral Sclerosis: Precise Diagnosis and Individualized Treatment. ( 28937029 )
2017
30
Deep learning predictions of survival based on MRI in amyotrophic lateral sclerosis. ( 28070484 )
2017
31
An insight into death wish among patients with amyotrophic lateral sclerosis in India using "Wish-to-Die Questionnaire". ( 28084237 )
2017
32
Up-regulation of CB2 receptors in reactive astrocytes in canine degenerative myelopathy, a disease model of amyotrophic lateral sclerosis. ( 28069688 )
2017
33
Genetic Correction of SOD1 Mutant iPSCs Reveals ERK and JNK Activated AP1 as a Driver of Neurodegeneration in Amyotrophic Lateral Sclerosis. ( 28366453 )
2017
34
Orofacial function and monitoring of oral care in amyotrophic lateral sclerosis. ( 28079403 )
2017
35
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis. ( 28413711 )
2017
36
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
37
Lead, cadmium and mercury in cerebrospinal fluid and risk of amyotrophic lateral sclerosis: A case-control study. ( 28089071 )
2017
38
HuR promotes the molecular signature and phenotype of activated microglia: Implications for amyotrophic lateral sclerosis and other neurodegenerative diseases. ( 28300326 )
2017
39
Degeneration of serotonin neurons triggers spasticity in amyotrophic lateral sclerosis. ( 28856708 )
2017
40
A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis. ( 28335620 )
2017
41
Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis. ( 28628244 )
2017
42
Split hand index and ulnar to median ratio in Hirayama disease and amyotrophic lateral sclerosis. ( 28616933 )
2017
43
Pathological and immunoblot analysis of phosphorylated TDP-43 in sporadic amyotrophic lateral sclerosis with pallido-nigro-luysian degeneration. ( 28906030 )
2017
44
Feeding Tubes and Health Care Service Utilization in Amyotrophic Lateral Sclerosis: Benefits and Limits to a Retrospective, Multicenter Study Using Big Data. ( 28942701 )
2017
45
Semantic dementia, progressive non-fluent aphasia and their association with amyotrophic lateral sclerosis. ( 28554960 )
2017
46
A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro. ( 27534431 )
2017
47
Expression of secreted phosphoprotein 1 (osteopontin) in human sensorimotor cortex and spinal cord: Changes in patients with amyotrophic lateral sclerosis. ( 27823929 )
2017
48
An Objective Functional Characterisation of Head Movement Impairment in Individuals with Neck Muscle Weakness Due to Amyotrophic Lateral Sclerosis. ( 28068376 )
2017
49
Organophosphate neurotoxicity to the voluntary motor system on the trail of environment-caused amyotrophic lateral sclerosis: the known, the misknown, and the unknown. ( 28070599 )
2017
50
Genetic Association between Amyotrophic Lateral Sclerosis and Cancer. ( 28953220 )
2017

Variations for Lateral Sclerosis

ClinVar genetic disease variations for Lateral Sclerosis:

6
id 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 TARDBP NM_007375.3(TARDBP): c.859G> A (p.Gly287Ser) single nucleotide variant Pathogenic/Likely pathogenic rs80356719 GRCh37 Chromosome 1, 11082325: 11082325
5 SOD1 NM_000454.4(SOD1): c.341T> C (p.Ile114Thr) single nucleotide variant Pathogenic rs121912441 GRCh37 Chromosome 21, 33039672: 33039672
6 TARDBP NM_007375.3(TARDBP): c.1043G> T (p.Gly348Val) single nucleotide variant Pathogenic rs1131690782 GRCh37 Chromosome 1, 11082509: 11082509
7 OPTN NM_001008212.1(OPTN): c.941A> T (p.Gln314Leu) single nucleotide variant Pathogenic rs142812715 GRCh38 Chromosome 10, 13124053: 13124053

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:

id Super pathways Score Top Affiliating Genes
1 11.86 DCTN1 GRIA2 NEFH SOD1 TARDBP
2
Show member pathways
10.98 ALS2 GRIA2 NEFH SOD1

GO Terms for Lateral Sclerosis

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.83 ALS2 ATXN2 C9orf72 DCTN1 FUS HNRNPA1
2 cytoplasmic vesicle GO:0031410 9.63 ANG C9orf72 OPTN SIGMAR1 SOD1 UBQLN2
3 lipid particle GO:0005811 9.5 FIG4 SIGMAR1 VCP
4 autophagosome GO:0005776 9.43 C9orf72 OPTN UBQLN2
5 dendritic spine GO:0043197 9.37 ALS2 FUS
6 growth cone GO:0030426 8.92 ALS2 ANG SETX SIGMAR1

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

id Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.33 ALS2 FIG4 SOD1
2 synaptic transmission, glutamatergic GO:0035249 8.96 ALS2
3 neurofilament cytoskeleton organization GO:0060052 8.96 NEFH SOD1
4 autophagy GO:0006914 8.92 C9orf72 OPTN UBQLN2 VCP

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.1 FUS OPTN SETX SOD1 TARDBP VCP
2 dynein complex binding GO:0070840 8.96 DCTN1 NEFH

Sources for Lateral Sclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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