PLSA1
MCID: PRM092
MIFTS: 53

Primary Lateral Sclerosis, Adult, 1 (PLSA1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Primary Lateral Sclerosis, Adult, 1

MalaCards integrated aliases for Primary Lateral Sclerosis, Adult, 1:

Name: Primary Lateral Sclerosis, Adult, 1 56 13 71
Primary Lateral Sclerosis 58 54
Adult-Onset Primary Lateral Sclerosis 58
Lateral Sclerosis 71
Pls, Adult; Plsa 56
Adult-Onset Pls 58
Pls, Adult 56
Plsa1 56
Plsa 56
Pls 58

Characteristics:

Orphanet epidemiological data:

58
primary lateral sclerosis
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
average age at onset between 40 and 50 years


HPO:

31
primary lateral sclerosis, adult, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 611637
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 72 C0154682 C1968845
Orphanet 58 ORPHA35689
MedGen 41 C1968845
UMLS 71 C0154682 C1968845

Summaries for Primary Lateral Sclerosis, Adult, 1

NINDS : 53 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 : Primary Lateral Sclerosis, Adult, 1, also known as primary lateral sclerosis, is related to spastic paraparesis and hereditary spastic paraplegia, and has symptoms including upper motor neuron signs An important gene associated with Primary Lateral Sclerosis, Adult, 1 is SPG7 (SPG7 Matrix AAA Peptidase Subunit, Paraplegin), and among its related pathways/superpathways are Neuroscience and Copper homeostasis. The drugs Mexiletine and Minocycline have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and testes, and related phenotypes are babinski sign and abnormal upper motor neuron morphology

OMIM : 56 Although primary lateral sclerosis (PLS) is similar to amyotrophic lateral sclerosis (ALS; 105400), they are considered to be clinically distinct progressive paralytic neurodegenerative disorders. Following a period of diagnostic confusion, the clinical distinction between ALS and PLS became clear and diagnostic criteria were established (Pringle et al., 1992). PLS is characterized by degeneration of the upper motor neurons and the corticospinal and corticobulbar tracts, whereas ALS is a more severe disorder characterized by degeneration of both the upper and lower motor neurons. See 606353 for autosomal recessive juvenile-onset PLS, which is caused by mutations in the ALS2 gene (606352). (611637)

Wikipedia : 74 Primary lateral sclerosis (PLS) is a very rare neuromuscular disease characterized by progressive muscle... more...

Related Diseases for Primary Lateral Sclerosis, Adult, 1

Diseases in the Lateral Sclerosis family:

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

Diseases related to Primary Lateral Sclerosis, Adult, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 327)
# Related Disease Score Top Affiliating Genes
1 spastic paraparesis 30.4 SPG7 SPAST
2 hereditary spastic paraplegia 30.0 SPG7 SPAST ALS2
3 spasticity 29.8 SPG7 SPAST ALS2
4 motor neuron disease 29.7 SPAST SOD1 SNCA MAPT ARHGEF2 ALS2
5 spastic paraplegia 4, autosomal dominant 29.5 SPG7 SPAST ALS2
6 supranuclear palsy, progressive, 1 29.3 SOD1 SNCA MAPT
7 frontotemporal dementia 29.3 SOD1 SNCA MAPT
8 aphasia 29.3 SNCA MAPT
9 dementia 29.1 SOD1 SNCA MAPT
10 tremor 29.0 SNCA MAPT
11 amyotrophic lateral sclerosis 1 28.7 SPAST SOD1 SNCA MAPT ALS2
12 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 28.3 SOD1 SNCA MAPT ALS2
13 papillon-lefevre syndrome 12.4
14 platelet groups--pl system 12.2
15 lateral sclerosis 12.2
16 primary lateral sclerosis, juvenile 12.1
17 pityriasis lichenoides 11.5
18 pleomorphic liposarcoma 11.5
19 enthesopathy 11.5
20 pancreatic lipase deficiency 11.3
21 haim-munk syndrome 11.3
22 spinal muscular atrophy, type iii 11.2
23 spinal muscular atrophy, type iv 11.2
24 infantile-onset ascending hereditary spastic paralysis 11.2
25 proximal spinal muscular atrophy 11.2
26 potocki-lupski syndrome 11.2
27 xanthomatosis 11.2
28 skin tag 11.2
29 proteus-like syndrome 11.2
30 allergic encephalomyelitis 10.4
31 ischemia 10.3
32 attention deficit-hyperactivity disorder 10.3
33 polydactyly 10.2
34 cardiogenic shock 10.2
35 coronary thrombosis 10.2
36 spastic paraplegia 5a, autosomal recessive 10.2 SPG7 SPAST
37 spastic paraplegia 46, autosomal recessive 10.2 SPG7 SPAST
38 spastic paraplegia 11, autosomal recessive 10.2 SPG7 SPAST
39 pseudobulbar affect 10.2
40 spastic paraplegia 31, autosomal dominant 10.2 SPG7 SPAST
41 spastic paraplegia 13, autosomal dominant 10.2 SPG7 SPAST
42 ornithosis 10.2
43 acute myocardial infarction 10.2
44 spastic paraplegia 15, autosomal recessive 10.2 SPG7 SPAST
45 spastic paraplegia 7, autosomal recessive 10.1
46 spastic paraplegia 6, autosomal dominant 10.1 SPG7 SPAST
47 spastic paraplegia 8, autosomal dominant 10.1 SPG7 SPAST
48 spastic paraplegia 10, autosomal dominant 10.1 SPG7 SPAST
49 spastic paraplegia 2, x-linked 10.1 SPG7 SPAST
50 spastic paraplegia 20, autosomal recessive 10.1 SPG7 SPAST

Comorbidity relations with Primary Lateral Sclerosis, Adult, 1 via Phenotypic Disease Network (PDN):


Acute Cystitis Intermittent Claudication

Graphical network of the top 20 diseases related to Primary Lateral Sclerosis, Adult, 1:



Diseases related to Primary Lateral Sclerosis, Adult, 1

Symptoms & Phenotypes for Primary Lateral Sclerosis, Adult, 1

Human phenotypes related to Primary Lateral Sclerosis, Adult, 1:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
2 abnormal upper motor neuron morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002127
3 generalized hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007034
4 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
5 loss of speech 58 31 frequent (33%) Frequent (79-30%) HP:0002371
6 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
7 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
8 emg: chronic denervation signs 58 31 frequent (33%) Frequent (79-30%) HP:0003444
9 pseudobulbar signs 58 31 frequent (33%) Frequent (79-30%) HP:0002200
10 progressive spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0007199
11 motor axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007002
12 cervical spinal cord atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010873
13 spasticity 58 Very frequent (99-80%)
14 hyperreflexia 31 HP:0001347
15 upper motor neuron dysfunction 58 Very frequent (99-80%)
16 spastic tetraparesis 31 HP:0001285
17 sensory impairment 58 Excluded (0%)
18 atrophy of the spinal cord 58 Occasional (29-5%)
19 abnormal lower motor neuron morphology 58 Excluded (0%)
20 weakness due to upper motor neuron dysfunction 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
dysphagia

Neurologic Peripheral Nervous System:
no sensory abnormalities

Neurologic Central Nervous System:
hyperreflexia
spastic tetraparesis
spastic gait
spastic dysarthria
upper motor neuron signs
more

Clinical features from OMIM:

611637

UMLS symptoms related to Primary Lateral Sclerosis, Adult, 1:


upper motor neuron signs

MGI Mouse Phenotypes related to Primary Lateral Sclerosis, Adult, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 ALS2 ARHGEF2 MAPT SNCA SOD1 SPAST
2 nervous system MP:0003631 9.17 ALS2 ARHGEF2 MAPT SNCA SOD1 SPAST

Drugs & Therapeutics for Primary Lateral Sclerosis, Adult, 1

Drugs for Primary Lateral Sclerosis, Adult, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 339)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
2
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
3
Capsaicin Approved Phase 4 404-86-4 1548943
4
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
5 Anti-Inflammatory Agents Phase 4
6 Central Nervous System Stimulants Phase 4
7 Dermatologic Agents Phase 4
8 TA 0910 Phase 4
9
Olanzapine Approved, Investigational Phase 2, Phase 3 132539-06-1 4585
10
tannic acid Approved Phase 2, Phase 3 1401-55-4
11
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337
12
Methylcobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
13
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
14
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
15
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 15589840 11953898
16
Mecasermin Approved, Investigational Phase 3 68562-41-4
17
Citalopram Approved Phase 3 59729-33-8 2771
18
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
19
Ceftriaxone Approved Phase 3 73384-59-5 5361919 5479530
20
Ethanol Approved Phase 3 64-17-5 702
21
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
22
Memantine Approved, Investigational Phase 2, Phase 3 19982-08-2 4054
23
Ravulizumab Approved, Investigational Phase 3 1803171-55-2
24
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 27284 23925
25
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
26
Trazodone Approved, Investigational Phase 2, Phase 3 19794-93-5 5533
27
Edaravone Approved, Investigational Phase 2, Phase 3 89-25-8 70335
28
Sodium citrate Approved, Investigational Phase 3 68-04-2
29
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
30
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
31
Pramipexole Approved, Investigational Phase 3 104632-26-0 119570 59868
32
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
33
Tamsulosin Approved, Investigational Phase 3 106133-20-4 129211
34
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
35
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
36
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
37
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
38
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
39 Nabiximols Investigational Phase 2, Phase 3 56575-23-6
40 Molgramostim Investigational Phase 2, Phase 3 99283-10-0
41
Cobalamin Experimental Phase 2, Phase 3 13408-78-1 6857388
42
Tauroursodeoxycholic acid Experimental, Investigational Phase 3 14605-22-2 12443252
43
Simendan Investigational Phase 3 131741-08-7
44 Cholinergic Agents Phase 2, Phase 3
45 retinol Phase 2, Phase 3
46 Retinol palmitate Phase 2, Phase 3
47 Immunologic Factors Phase 3
48 Adjuvants, Immunologic Phase 2, Phase 3
49 Vitamin B 12 Phase 2, Phase 3
50 Vitamin B12 Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 636)
# Name Status NCT ID Phase Drugs
1 Role of Non-invasive Ventilation in Amyotrophic Lateral Sclerosis: Volume Versus Pressure Mode Unknown status NCT00560287 Phase 4
2 Care (Canadian ALS Riluzole Evaluation) Multicentre Phase IV Comparative Study of the Effects of Riluzole 50mg Bid on the Survival of ALS Subjects Compared to Historical Controls 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: Pilot Study Completed NCT00614926 Phase 4 Modafinil;Placebo
6 Riluzole in Fragile X Syndrome: A Pilot Study Incorporating Biomarker Assay Completed NCT00895752 Phase 4 Riluzole
7 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
8 Evaluation of Motor Unit Abnormalities After Experimentally Induced Sensitization Using Capsaicin: A Randomized, Double-Blinded, Placebo-Controlled Study Completed NCT04361149 Phase 4 Capsaicin Topical Cream (0.075%)
9 Multicenter, Randomized, Double-blind, Placebo-controlled, Phase IV Clinical Trial to Evaluate and Compare the Safety and Efficacy of C-Trelin OD Tab 5mg(Taltirelin Hydrate) in Patients With Ataxia Induced by Spinocerebellar Degeneration Recruiting NCT04107740 Phase 4 C-Trelin OD Tab(5mg Taltirelin Hydrate);Placebo
10 Japanese Early-stage Clinical Trial of Ultra-high Dose Methylcobalamin for Amyotrophic Lateral Sclerosis: a Pivotal Phase 3 Randomized Controlled Study Unknown status NCT03548311 Phase 3 methylcobalamin;saline solution
11 A Phase III, Multi-Center, Double-Blind, Placebo Controlled, Randomized Study of Creatine Monohydrate in Patients With Amyotrophic Lateral Sclerosis Unknown status NCT00069186 Phase 3 Creatine Monohydrate
12 Randomized, Placebo-controlled Parallel Group Study for the Evaluation of an Oral Dose of 10mg Olanzapine in Combination With Riluzole for the Treatment of Loss of Appetite in Patients With Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00876772 Phase 2, Phase 3 Olanzapine
13 Phase 2/3 Application of Botulinum Neurotoxin Type A in Salivary Glands as a Treatment of Chronic Drooling in Patients With Cerebral Palsy: A Controlled Clinical Trial. Unknown status NCT01489904 Phase 2, Phase 3
14 A Fase II, Randomized, Double-Blind, Placebo-Controlled, Multicentre Study for the Safety and Efficacy on Spasticity Symptoms of a Cannabis Sativa Extract in Motor Neuron Disease Patients Completed NCT01776970 Phase 2, Phase 3 Cannabis Sativa extract Oromucosal spray
15 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
16 The Effect of Granulocyte Colony Stimulating Factor (GCSF) in the Treatment of Amyotrophic Lateral Sclerosis (ALS) Patients Referred to Tehran Imam Khomeini and Shariati Hospital Centers in 2013 Completed NCT01825551 Phase 2, Phase 3 Granulocyte Colony Stimulating Factor;Placebo
17 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
18 A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study of the Safety and Efficacy of Dexpramipexole in Subjects With Amyotrophic Lateral Sclerosis Completed NCT01281189 Phase 3 Dexpramipexole;Placebo
19 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
20 A Double-Blind Controlled, Multicenter Phase II/III Study to Assess the Safety and Efficacy of AVP-923 (Dextromethorphan/Quinidine) in the Treatment of Pseudobulbar Affect in Patients With Amyotrophic Lateral Sclerosis Completed NCT00021697 Phase 3 AVP-923
21 Phase 2-3 - Memantine for Disability in Amyotrophic Lateral Sclerosis Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;Placebo
22 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
23 Multicenter, Randomised, Double-blind, Placebo-controlled, Parallel Group, Phase 2/3 Study to Compare the Efficacy and Safety of Masitinib Completed NCT02588677 Phase 2, Phase 3 Masitinib (4.5);Riluzole;Placebo;Masitinib (3.0)
24 An Expanded Controlled Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis in Double-Blind, Parallel-Group, Placebo-Controlled Manner (Phase 3) Completed NCT00424463 Phase 3 MCI-186;Placebo of MCI-186
25 An Exploratory Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (Severity Classification III) in Double-Blind, Parallel-Group, Placebo-Controlled Manner Completed NCT00415519 Phase 3 MCI-186;Placebo of MCI-186
26 A Confirmatory Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis in Double-blind, Parallel-group, Placebo-controlled Manner. Completed NCT00330681 Phase 3 MCI-186;Placebo of MCI-186
27 An Open-label, 8- Week, Flexible Dose Trial of Escitalopram (Lexapro®) in Comorbid Major Depression With Amyotrophic Lateral Sclerosis and Multiple Sclerosis Completed NCT00965497 Phase 3 escitalopram
28 An Open-label Safety Extension Study of TRO19622 in Amyotrophic Lateral Sclerosis (ALS) Patients Treated With Riluzole Completed NCT01285583 Phase 2, Phase 3 TRO19622
29 A Randomized, Double-Blind, Placebo-Controlled Study of Safety and Efficacy of Botulinum Toxin Type B (Myobloc) in Sialorrhea in Amyotrophic Lateral Sclerosis Completed NCT00125203 Phase 2, Phase 3 Botulinum toxin type B (Myobloc)
30 Efficacy and Safety Study of MCI-186 for Treatment of the Patients With Amyotrophic Lateral Sclerosis (ALS) 2 Completed NCT01492686 Phase 3 MCI-186;Placebo;MCI-186 in open label phase
31 A Phase 3, Open-Label Extension Study of Tirasemtiv for Patients With Amyotrophic Lateral Sclerosis (ALS) Who Completed VITALITY-ALS (CY 4031) Completed NCT02936635 Phase 3 tirasemtiv
32 Randomized Crossover Design Trial of Vitamin E vs Placebo for Treatment of Cramps in Amyotrophic Lateral Sclerosis. Completed NCT00372879 Phase 3
33 A Randomized, Double-Blind, Placebo-Controlled Sequential Clinical Trial of Sodium Valproate in ALS Completed NCT00136110 Phase 3 Sodium Valproate
34 Phase II/III, Multicenter, Randomized, Parallel Group, Double-blind, Placebo Controlled Study to Assess Safety and Efficacy of TRO19622 in Amyotrophic Lateral Sclerosis (ALS) Patients Treated With Riluzole Completed NCT00868166 Phase 3 Olesoxime;Placebo Comparator;Riluzole
35 Evaluation of the Safety, Tolerability, Efficacy and Activity of AMX0035, a Fixed Combination of Phenylbutyrate (PB) and Tauroursodeoxycholic Acid (TUDCA), for the Treatment of ALS Completed NCT03127514 Phase 2, Phase 3 AMX0035
36 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
37 Clinical Trial Ceftriaxone in Subjects With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00349622 Phase 3 ceftriaxone
38 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
39 Study of Dopamine and Serotonin Transporters in Patients With Amyotrophic Lateral Sclerosis and Controls. Analysis With 123I-FP-CIT (Datscan) and 123I-ADAM Brain SPECT Completed NCT01160263 Phase 3 SPECT : 123 I-FP-CIT (DATSCAN) and 123I-ADAM
40 Phase II/III Randomized, Placebo-Controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral Sclerosis (ALS) Completed NCT00706147 Phase 2, Phase 3 Arimoclomol;Placebo
41 A Phase 3, Multi-National, Double-Blind, Randomized, Placebo-Controlled, Stratified, Parallel Group, Study to Evaluate the Safety, Tolerability and Efficacy of Tirasemtiv in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT02496767 Phase 3 Tirasemtiv;Placebo tablets
42 A Phase 3, Multicenter, Double-Blind, Placebo-Controlled, Single-Treatment Efficacy and Safety Study of MYOBLOC® (Part A) Followed by Open-Label, Multiple-Treatment With MYOBLOC® (Part B) in the Treatment of Troublesome Sialorrhea in Adult Subjects Completed NCT01994109 Phase 3 MYOBLOC
43 A Double-Blind, Randomized, Placebo-Controlled, Multicenter Study to Assess the Safety and Efficacy and to Determine the Pharmacokinetics of Two Doses of AVP-923 (Dextromethorphan/Quinidine) in the Treatment of Pseudobulbar Affect (PBA) in Patients With Amyotrophic Lateral Sclerosis (ALS) and Multiple Sclerosis (MS) Completed NCT00573443 Phase 3 dextromethorphan hydrobromide 20 mg and quinidine sulfate 10 mg;dextromethorphan hydrobromide 30 mg and quinidine sulfate 10 mg;Placebo
44 Efficacy of Riluzole in Patients With Cervical Spondylotic Myelopathy Undergoing Surgical Treatment. A Randomized, Double-Blind, Placebo-controlled Multi-Center Study Completed NCT01257828 Phase 3 riluzole;Placebo medication
45 A European, Randomised, Double-blind, Active Comparator Controlled, Cross-over, Efficacy and Safety Study of a New 10% Ready To-use Liquid Human Intravenous Immunoglobulin (I10E) Versus Kiovig® in Patients With Multifocal Motor Neuropathy Completed NCT01951924 Phase 3 Biological : I10E (Human normal Immunoglobulin for intravenous administration 100mg/mL);Biological: Kiovig® (Human normal Immunoglobulin for intravenous administration 100mg/mL)
46 Repetitive Transcranial Magnetic Stimulation in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
47 Double-Blind, Randomised, Two-Armed Study for the Evaluation of Efficacy and Safety of Minocycline for Treatment Completed NCT00146809 Phase 3 Minocyline
48 Preventing Loss of Independence Through Exercise (PLIE) in Persons With Dementia Completed NCT02350127 Phase 2, Phase 3
49 A Randomized Placebo-Controlled, Crossover-Design Study of the Effects of Low Dose Naltrexone on Quality of Life as Measured by the Multiple Sclerosis Quality of Life Inventory (MSQLI54) Completed NCT00501696 Phase 3 4.5 mg Naltrexone;Naltrexone
50 A Double Blind Randomized Study of Minocycline for the Treatment of Negative and Cognitive Symptoms in Early-Phase Schizophrenia Completed NCT00733057 Phase 3 Minocycline;Placebo (200 mg/day)

Search NIH Clinical Center for Primary Lateral Sclerosis, Adult, 1

Genetic Tests for Primary Lateral Sclerosis, Adult, 1

Anatomical Context for Primary Lateral Sclerosis, Adult, 1

MalaCards organs/tissues related to Primary Lateral Sclerosis, Adult, 1:

40
Brain, Bone, Testes, Spinal Cord, Cortex, Bone Marrow, Lung

Publications for Primary Lateral Sclerosis, Adult, 1

Articles related to Primary Lateral Sclerosis, Adult, 1:

(show top 50) (show all 369)
# Title Authors PMID Year
1
A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1. 56 61
18332252 2008
2
Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 gene. 61 56
17698795 2007
3
Autosomal dominant primary lateral sclerosis. 56 61
17404201 2007
4
Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. 56 61
1606479 1992
5
Astrocytic protection of spinal motor neurons but not cortical neurons against loss of Als2/alsin function. 61 54
19304783 2009
6
A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family. 61 54
19122027 2009
7
Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe. 61 54
18523452 2008
8
Spastin mutations in sporadic adult-onset upper motor neuron syndromes. 61 54
16240363 2005
9
Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. 54 61
14668431 2003
10
The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. 54 61
12919135 2003
11
ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. 61 54
12837691 2003
12
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. 54 61
12601111 2003
13
Motor neuron-astrocyte interactions and levels of Cu,Zn superoxide dismutase in sporadic amyotrophic lateral sclerosis. 61 54
7895821 1995
14
"Switchboard" malfunction in motor neuron diseases: Selective pathology of thalamic nuclei in amyotrophic lateral sclerosis and primary lateral sclerosis. 61
32554322 2020
15
An autopsy case of primary lateral sclerosis with Alzheimer's disease. 61
32240971 2020
16
Reliability of phrenic nerve conduction study: In healthy controls and in patients with primary lateral sclerosis. 61
32193165 2020
17
Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS. 61
32385188 2020
18
Combined brain and spinal FDG PET allows differentiation between ALS and ALS mimics. 61
32314027 2020
19
Progressive supranuclear palsy and primary lateral sclerosis secondary to globular glial tauopathy: a case report and a practical theoretical framework for the clinical prediction of this rare pathological entity. 61
32090696 2020
20
Thalamic, hippocampal and basal ganglia pathology in primary lateral sclerosis and amyotrophic lateral sclerosis: Evidence from quantitative imaging data. 61
32055654 2020
21
Progressive brainstem pathology in motor neuron diseases: Imaging data from amyotrophic lateral sclerosis and primary lateral sclerosis. 61
32083157 2020
22
Primary lateral sclerosis: consensus diagnostic criteria. 61
32029539 2020
23
Primary lateral sclerosis: diagnosis and management. 61
32217663 2020
24
Primary lateral sclerosis (PLS) functional rating scale: PLS-specific clinimetric scale. 61
31758557 2020
25
The clinical and radiological profile of primary lateral sclerosis: an annotation on its pathological and clinical background. 61
31807916 2020
26
Focal alterations of the callosal area III in primary lateral sclerosis: An MRI planimetry and texture analysis. 61
32114375 2020
27
Macroglossia in primary lateral sclerosis: a case report. 61
31307259 2019
28
Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis. 61
31244341 2019
29
Longitudinal analysis of sniff nasal inspiratory pressure assessed using occluded and un-occluded measurement techniques in amyotrophic lateral sclerosis and primary lateral sclerosis. 61
31313597 2019
30
CSF chitinase proteins in amyotrophic lateral sclerosis. 61
31123140 2019
31
The clinical and radiological profile of primary lateral sclerosis: a population-based study. 61
31325016 2019
32
Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings. 61
31190169 2019
33
Permanent lesion to the corticospinal tract after therapy with capecitabine. 61
31537598 2019
34
A neuropsychological and behavioral study of PLS. 61
31134825 2019
35
Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons. 61
31394733 2019
36
[Band sign in primary lateral sclerosis]. 61
31236910 2019
37
Low-Dose Intrathecal Ziconotide for Spasticity From Primary Lateral Sclerosis: A Case Report. 61
31260413 2019
38
Hereditary primary lateral sclerosis and progressive nonfluent aphasia. 61
30834979 2019
39
Story of the ALS-FTD continuum retold: rather two distinct entities. 61
30257969 2019
40
Primary lateral sclerosis: a distinct entity or part of the ALS spectrum? 61
30654671 2019
41
Cerebellar tract alterations in PLS and ALS. 61
30663900 2019
42
Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology. 61
30846210 2019
43
Mills' syndrome revisited. 61
30631918 2019
44
Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial. 61
30554828 2019
45
The width of the third ventricle associates with cognition and behaviour in motor neuron disease. 61
30183086 2019
46
Cognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypes. 61
30076267 2019
47
Widespread subcortical grey matter degeneration in primary lateral sclerosis: a multimodal imaging study with genetic profiling. 61
31795059 2019
48
Cross-sectional and longitudinal assessment of the upper cervical spinal cord in motor neuron disease. 61
31499409 2019
49
Diffusion tensor imaging and quantitative susceptibility mapping as diagnostic tools for motor neuron disorders. 61
30286313 2019
50
Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family. 61
31117107 2019

Variations for Primary Lateral Sclerosis, Adult, 1

Expression for Primary Lateral Sclerosis, Adult, 1

Search GEO for disease gene expression data for Primary Lateral Sclerosis, Adult, 1.

Pathways for Primary Lateral Sclerosis, Adult, 1

Pathways related to Primary Lateral Sclerosis, Adult, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.67 SOD1 SNCA MAPT
2 10.89 SOD1 MAPT
3 10.09 MAPT ARHGEF2

GO Terms for Primary Lateral Sclerosis, Adult, 1

Cellular components related to Primary Lateral Sclerosis, Adult, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.67 SOD1 SNCA MAPT ARHGEF2
2 axon GO:0030424 9.58 SNCA MAPT ALS2
3 protein-containing complex GO:0032991 9.56 SOD1 SNCA ARHGEF2 ALS2
4 microtubule GO:0005874 9.5 SPAST MAPT ARHGEF2
5 neuronal cell body GO:0043025 9.35 SOD1 SNCA MAPT ARHGEF2 ALS2
6 growth cone GO:0030426 9.33 SNCA MAPT ALS2
7 axon cytoplasm GO:1904115 8.92 SPG7 SPAST SOD1 MAPT

Biological processes related to Primary Lateral Sclerosis, Adult, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.65 SOD1 SNCA ARHGEF2
2 synapse organization GO:0050808 9.46 SNCA MAPT
3 positive regulation of protein serine/threonine kinase activity GO:0071902 9.43 SNCA ALS2
4 cytoplasmic microtubule organization GO:0031122 9.4 SPAST MAPT
5 positive regulation of neuron death GO:1901216 9.37 SNCA MAPT
6 microglial cell activation GO:0001774 9.32 SNCA MAPT
7 positive regulation of superoxide anion generation GO:0032930 9.26 SOD1 MAPT
8 supramolecular fiber organization GO:0097435 9.16 SNCA MAPT
9 axonal transport of mitochondrion GO:0019896 8.96 SPAST MAPT
10 anterograde axonal transport GO:0008089 8.8 SPG7 SPAST SOD1

Molecular functions related to Primary Lateral Sclerosis, Adult, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.67 SPG7 SOD1 SNCA ARHGEF2
2 enzyme binding GO:0019899 9.61 SOD1 SNCA MAPT
3 copper ion binding GO:0005507 9.4 SOD1 SNCA
4 beta-tubulin binding GO:0048487 9.32 SPAST SNCA
5 alpha-tubulin binding GO:0043014 9.26 SPAST SNCA
6 microtubule binding GO:0008017 9.26 SPAST SNCA MAPT ARHGEF2
7 Rac guanyl-nucleotide exchange factor activity GO:0030676 9.16 ARHGEF2 ALS2
8 Rac GTPase binding GO:0048365 8.8 SOD1 ARHGEF2 ALS2

Sources for Primary Lateral Sclerosis, Adult, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....