ALS-PDC1
MCID: AMY027
MIFTS: 54

Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 (ALS-PDC1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

Name: Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 56 12 52 73 15
Guam Disease 56 12 52 58 73
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex of Guam 56 12 73
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 58 29 6
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex, Susceptibility to 56 13
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia of Guam Syndrome 12 58
Parkinsonism-Dementia-Als Complex 12 58
Parkinsonian Disorders 43 71
Lytico-Bodig Disease 12 58
Als-Pdc 56 12
Pdals 12 58
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1, Susceptibility to 6
Amyotrophic Lateral Sclerosis, Parkinsonism/dementia Complex of Guam 52
Sclerosis, Lateral, Amyotrophic/parkinsonism/dementia Complex 1 39
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 56
Amyotrophic Lateral Sclerosis, Guam Form 71
Amyotrophic Lateral Sclerosis 43
Als/pdc of Guam 73
Als-Pdc1 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111246
OMIM 56 105500
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 72 C0543859
Orphanet 58 ORPHA90020
MedGen 41 C0543859
UMLS 71 C0242422 C0543859

Summaries for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

OMIM : 56 Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodegenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual. (105500)

MalaCards based summary : Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1, also known as guam disease, is related to frontotemporal dementia and/or amyotrophic lateral sclerosis 3 and amyotrophic lateral sclerosis 19, and has symptoms including tremor, abnormality of extrapyramidal motor function and bradykinesia. An important gene associated with Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 is TRPM7 (Transient Receptor Potential Cation Channel Subfamily M Member 7), and among its related pathways/superpathways are Neuroscience and Parkinsons Disease Pathway. The drugs Zonisamide and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and testes, and related phenotypes are muscle weakness and dementia

Disease Ontology : 12 A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2.

UniProtKB/Swiss-Prot : 73 Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1: A neurodegenerative disorder characterized by chronic, progressive and uniformly fatal amyotrophic lateral sclerosis and parkinsonism- dementia. Both diseases are known to occur in the same kindred, the same sibship and even the same individual.

Related Diseases for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Diseases related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 772)
# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 34.9 TARDBP C9orf72
2 amyotrophic lateral sclerosis 19 34.8 TARDBP SOD1
3 amyotrophic lateral sclerosis type 22 34.8 TARDBP C9orf72
4 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 34.7 TARDBP SOD1 C9orf72
5 amyotrophic lateral sclerosis 4, juvenile 34.7 TARDBP SOD1 C9orf72
6 amyotrophic lateral sclerosis 8 34.7 TARDBP SOD1 C9orf72
7 amyotrophic lateral sclerosis type 6 34.6 TARDBP SOD1 C9orf72
8 amyotrophic lateral sclerosis 12 34.6 TARDBP SOD1
9 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 34.3 TARDBP SOD1 SNCA MAPT C9orf72
10 amyotrophic lateral sclerosis, juvenile, with dementia 34.3 TARDBP SNCB
11 spinocerebellar ataxia 2 33.9 TARDBP SOD1 C9orf72
12 primary lateral sclerosis, adult, 1 33.1 SOD1 SNCA MAPT
13 cerebral degeneration 32.8 SNCA MAPT ERCC6
14 progressive muscular atrophy 32.8 TARDBP SOD1 C9orf72
15 progressive bulbar palsy 32.8 SOD1 C9orf72
16 perry syndrome 32.7 TARDBP SNCA MAPT C9orf72
17 tremor 31.1 SNCA MAPT LRRK2
18 lateral sclerosis 31.1 TRPM7 TARDBP SOD1 PARK7 C9orf72
19 progressive non-fluent aphasia 31.0 MAPT C9orf72
20 semantic dementia 31.0 TARDBP MAPT C9orf72
21 agraphia 30.9 TARDBP MAPT C9orf72
22 dysgraphia 30.9 TARDBP MAPT C9orf72
23 inclusion body myositis 30.8 TARDBP SNCA MAPT
24 spinal muscular atrophy 30.8 TARDBP SOD1 SNCA MAPT C9orf72
25 pseudobulbar palsy 30.7 TARDBP C9orf72
26 corticobasal degeneration 30.7 TARDBP MAPT LRRK2
27 frontotemporal dementia, chromosome 3-linked 30.5 TARDBP MAPT
28 prion disease 30.5 TARDBP SOD1 SNCA MAPT
29 spinal and bulbar muscular atrophy, x-linked 1 30.5 TARDBP SOD1 ERCC6 C9orf72
30 peripheral nervous system disease 30.4 SOD1 SNCA LRRK2 ERCC6
31 sleep disorder 30.3 SNCA MAPT LRRK2 IGLON5
32 akinetic mutism 30.3 TARDBP SNCA MAPT
33 prosopagnosia 30.2 TARDBP MAPT
34 ideomotor apraxia 30.1 TARDBP MAPT
35 machado-joseph disease 30.1 TARDBP SNCA ERCC6
36 rem sleep behavior disorder 30.0 SNCA MAPT LRRK2 IGLON5
37 parkinson disease 2, autosomal recessive juvenile 30.0 SNCA PARK7 LRRK2
38 essential tremor 30.0 SNCA MAPT LRRK2 C9orf72
39 kufor-rakeb syndrome 30.0 SNCA PARK7 LRRK2
40 early-onset parkinson's disease 29.9 SNCA PARK7 LRRK2
41 multiple system atrophy 1 29.9 SNCB SNCA PARK7 MAPT LRRK2
42 movement disease 29.9 TARDBP SNCA PARK7 MAPT LRRK2 C9orf72
43 cerebral amyloid angiopathy, cst3-related 29.9 TARDBP SNCA MAPT
44 motor neuron disease 29.9 TARDBP SOD1 SNCA MAPT C9orf72
45 amyotrophic lateral sclerosis 1 29.9 TARDBP SOD1 SNCA PARK7 MAPT LRRK2
46 von economo's disease 29.8 SNCA LRRK2 IGLON5
47 3-methylglutaconic aciduria, type iii 29.8 SNCA PARK7 LRRK2 ERCC6
48 charcot-marie-tooth disease 29.7 TARDBP SOD1 SNCA LRRK2 C9orf72
49 disease of mental health 29.6 TARDBP SNCA MAPT ERCC6 C9orf72
50 autosomal dominant cerebellar ataxia 29.6 TARDBP SOD1 SNCA MAPT LRRK2 ERCC6

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:



Diseases related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Human phenotypes related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 dementia 31 HP:0000726
3 muscle spasm 31 HP:0003394
4 paralysis 31 HP:0003470
5 parkinsonism 31 HP:0001300
6 bulbar palsy 31 HP:0001283
7 amyotrophic lateral sclerosis 31 HP:0007354
8 abnormal lower motor neuron morphology 31 HP:0002366

Symptoms via clinical synopsis from OMIM:

56
Muscle:
muscle weakness
muscle cramps

Misc:
chronic, progressive, and fatal

Neuro:
amyotrophic lateral sclerosis
parkinsonism-dementia
progressive motor function loss
lower motor neuron manifestations
bulbar paralysis

Clinical features from OMIM:

105500

UMLS symptoms related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:


tremor, abnormality of extrapyramidal motor function, bradykinesia, symptoms, central nervous system signs and symptoms

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 C9orf72 ERCC6 LRRK2 MAPT MDK PARK7
2 growth/size/body region MP:0005378 10.14 C9orf72 ERCC6 MAPT MDK PARK7 PCSK1N
3 cellular MP:0005384 10.13 C9orf72 ERCC6 LRRK2 MAPT MDK PARK7
4 homeostasis/metabolism MP:0005376 10.1 C9orf72 ERCC6 LRRK2 MAPT MDK MGMT
5 hematopoietic system MP:0005397 10.07 C9orf72 ERCC6 LRRK2 MAPT MDK NOP53
6 immune system MP:0005387 9.96 C9orf72 ERCC6 LRRK2 MAPT MDK NOP53
7 mortality/aging MP:0010768 9.93 C9orf72 ERCC6 LRRK2 MAPT MDK MGMT
8 nervous system MP:0003631 9.77 C9orf72 ERCC6 LRRK2 MAPT MDK MGMT
9 no phenotypic analysis MP:0003012 9.17 C9orf72 LRRK2 MAPT MGMT SNCA SNCB

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Drugs for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 371)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
4
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
5
Capsaicin Approved Phase 4 404-86-4 1548943
6
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
7
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
8
Amantadine Approved Phase 4 768-94-5 2130
9
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
10
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
11
Iodine Approved, Investigational Phase 4 7553-56-2 807
12
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
13 Hormones Phase 4
14 Calcium, Dietary Phase 4
15 calcium channel blockers Phase 4
16 Analgesics, Non-Narcotic Phase 4
17 Analgesics Phase 4
18 Anti-Inflammatory Agents Phase 4
19 Dopamine Agents Phase 4
20 Antiparkinson Agents Phase 4
21 Anti-Infective Agents Phase 4
22 Central Nervous System Stimulants Phase 4
23 Psychotropic Drugs Phase 4
24 Antidepressive Agents Phase 4
25 Antiemetics Phase 4
26 Soy Bean Phase 4
27 Serotonin Uptake Inhibitors Phase 4
28 Antiviral Agents Phase 4
29 Dermatologic Agents Phase 4
30 Dopamine Antagonists Phase 4
31 Whey Protein Phase 4
32 Quetiapine Fumarate Phase 4 111974-72-2
33 Neurotransmitter Agents Phase 4
34 Cholinergic Agents Phase 4
35 Antipsychotic Agents Phase 4
36 TA 0910 Phase 4
37 Nicotinic Agonists Phase 4
38 Pharmaceutical Solutions Phase 4
39 Calamus Phase 4
40 cadexomer iodine Phase 4
41
Calcium Nutraceutical Phase 4 7440-70-2 271
42
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
43
Carbon monoxide Approved, Investigational Phase 3 630-08-0 281
44
Methylcobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
45
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
46
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
47
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 15589840 11953898
48
tannic acid Approved Phase 2, Phase 3 1401-55-4
49
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337
50
Mecasermin Approved, Investigational Phase 3 68562-41-4

Interventional clinical trials:

(show top 50) (show all 755)
# 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 An Open-Label Tolerability and Exploratory Efficacy Study of Zonisamide for Dyskinesias in Parkinson's Disease Unknown status NCT03034538 Phase 4 Zonegran;Zonegran
3 A Randomized, Double-Blind, Placebo-Controlled Study of Droxidopa for Fatigue in Parkinson's Disease Unknown status NCT03034564 Phase 4 Northera;Placebo Oral Tablet
4 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
5 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
6 Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS) Completed NCT00613899 Phase 4
7 Modafinil for Treatment of Fatigue in ALS Patients: Pilot Study Completed NCT00614926 Phase 4 Modafinil;Placebo
8 Riluzole in Fragile X Syndrome: A Pilot Study Incorporating Biomarker Assay Completed NCT00895752 Phase 4 Riluzole
9 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
10 Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson's Disease: Changes in Biomarkers of Oxidative Stress, Profiles of Plasma Amino Acids and Their Derivatives and Brain Function Completed NCT01662414 Phase 4
11 A Multicentre, Randomised, Open Label, Comparative Phase 4 Trial to Assess Changes in Clinical Management After DaTSCAN Imaging of Subjects With Clinically Uncertain Parkinsonism in a General Neurologist Setting. Completed NCT00382967 Phase 4
12 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%)
13 A Randomized Controlled Trial Study of Risperidone and Olanzapine for the Schizophrenic Patients With Neuroleptic-Induced Acute Dystonia or Parkinsonism Completed NCT00331825 Phase 4 Risperidone and Olanzapine
14 Treatment of Agitation/Psychosis in Dementia/Parkinsonism (TAP/DAP) Completed NCT00043849 Phase 4 Quetiapine
15 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
16 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
17 Effect of Varenicline on Smoking Cessation in Patients With Schizophrenia: Evaluation of Antipsychotic Drug-Induced Neurological Symptoms as Correlates of Response Recruiting NCT03495024 Phase 4 Varenicline
18 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
19 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
20 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
21 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
22 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
23 Evaluation of the Diagnostic Accuracy and Safety of 123 I-ALTROPANE® as an Imaging Agent to Aid in the Diagnosis of Parkinsonian Syndromes (POET-2) Unknown status NCT00724906 Phase 3 123 I - ALTROPANE®
24 Targeting Monoaminergic Neuronal Networks in the Parkinsonian Patients After Carbon Monoxide Intoxication Unknown status NCT02138864 Phase 3
25 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
26 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
27 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
28 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
29 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
30 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
31 Phase 2-3 - Memantine for Disability in Amyotrophic Lateral Sclerosis Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;Placebo
32 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
33 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)
34 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
35 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
36 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
37 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
38 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)
39 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
40 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
41 Randomized Crossover Design Trial of Vitamin E vs Placebo for Treatment of Cramps in Amyotrophic Lateral Sclerosis. Completed NCT00372879 Phase 3
42 A Randomized, Double-Blind, Placebo-Controlled Sequential Clinical Trial of Sodium Valproate in ALS Completed NCT00136110 Phase 3 Sodium Valproate
43 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
44 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
45 An Open-label Safety Extension Study of TRO19622 in Amyotrophic Lateral Sclerosis (ALS) Patients Treated With Riluzole Completed NCT01285583 Phase 2, Phase 3 TRO19622
46 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
47 Clinical Trial Ceftriaxone in Subjects With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00349622 Phase 3 ceftriaxone
48 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
49 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
50 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

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Procyclidine
Procyclidine hydrochloride

Cochrane evidence based reviews: amyotrophic lateral sclerosis

Genetic Tests for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Genetic tests related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 29 TRPM7

Anatomical Context for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

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

Publications for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Articles related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

(show all 27)
# Title Authors PMID Year
1
TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan. 6 56
19405049 2010
2
A TRPM7 variant shows altered sensitivity to magnesium that may contribute to the pathogenesis of two Guamanian neurodegenerative disorders. 6 56
16051700 2005
3
Guam amyotrophic lateral sclerosis-parkinsonism-dementia linked to a plant excitant neurotoxin. 56 61
3603037 1987
4
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. 56
22637429 2012
5
Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates. 56
19567404 2009
6
The ALS/PDC syndrome of Guam and the cycad hypothesis. 56
18490618 2008
7
Prevalence of dementia in Chamorros on Guam: relationship to age, gender, education, and APOE. 56
17515539 2007
8
Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia. 56
17185385 2007
9
Debating the cause of a neurological disorder. 56
16990532 2006
10
TAU as a susceptibility gene for amyotropic lateral sclerosis-parkinsonism dementia complex of Guam. 56
11708997 2001
11
Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii Peninsula of Japan: clinical and neuropathological study and tau analysis. 56
11310628 2001
12
A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan. 56
10732812 1997
13
Familial aggregation of amyotrophic lateral sclerosis, dementia, and Parkinson's disease: evidence of shared genetic susceptibility. 56
7936240 1994
14
Guam: deadly disease dying out. 56
8332906 1993
15
Potential role of an additive genetic component in the cause of amyotrophic lateral sclerosis and parkinsonism-dementia in the western Pacific. 56
8418664 1993
16
Patterns of acquiring parkinsonism-dementia complex on Guam. 1944 through 1985. 56
2396931 1990
17
Amyloid of neurofibrillary tangles of Guamanian parkinsonism-dementia and Alzheimer disease share identical amino acid sequence. 56
3470778 1987
18
Disappearance of high-incidence amyotrophic lateral sclerosis and parkinsonism-dementia on Guam. 56
3969206 1985
19
Blood groups, immunoglobulin allotypes and dermatoglyphic features of patients with amyotrophic lateral sclerosis and parkinsonism-dementia of Guam. 56
6573136 1983
20
Search for a red cell enzyme or serum protein marker in amyotrophic lateral sclerosis and parkinsonism-dementia of Guam. 56
6573137 1983
21
Amyotrophic lateral sclerosis among Chamorro migrants from Guam. 56
7212649 1980
22
Amyotrophic lateral sclerosis-Parkinsonism dementia complex of Guam: further genetic investigations. 56
5770171 1969
23
Parkinsonism-dementia complex, an endemic disease on the island of Guam. I. Clinical features. 56
13907609 1961
24
Enduring involvement of tau, beta-amyloid, alpha-synuclein, ubiquitin and TDP-43 pathology in the amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam (ALS/PDC). 61
18843496 2008
25
[Role of excitatory amino acids in neuropathology]. 61
8728878 1995
26
l-BMAA and kainate-induced modulation of neurofilament concentrations as a measure of neurite outgrowth: Implications for an in vitro test of neurotoxicity. 61
20732212 1993
27
Use of neurite outgrowth as an in vitro method of assessing neurotoxicity. 61
8512188 1993

Variations for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PARK7 NM_007262.5(PARK7):c.133C>T (p.Gln45Ter)SNV Pathogenic 873319 1:8025426-8025426 1:7965366-7965366
2 TRPM7 NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)SNV Uncertain significance 4807 rs8042919 15:50878630-50878630 15:50586433-50586433

Expression for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1.

Pathways for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Pathways related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.7 TARDBP SOD1 SNCB SNCA PARK7 MAPT
2 11.06 SNCA PARK7 LRRK2

GO Terms for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1

Cellular components related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.88 TRPM7 SOD1 SNCA PARK7 MAPT LRRK2
2 lysosome GO:0005764 9.76 SOD1 SNCA LRRK2 C9orf72
3 mitochondrial matrix GO:0005759 9.73 SOD1 SNCA PARK7 LRRK2
4 neuron projection GO:0043005 9.65 SOD1 PARK7 MAPT LRRK2 C9orf72
5 axon GO:0030424 9.55 SNCA PARK7 MAPT LRRK2 C9orf72
6 mitochondrial intermembrane space GO:0005758 9.54 SOD1 SNCA PARK7
7 main axon GO:0044304 9.32 MAPT C9orf72
8 growth cone GO:0030426 9.26 SNCA MAPT LRRK2 C9orf72
9 inclusion body GO:0016234 8.8 SNCB SNCA LRRK2

Biological processes related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.92 PARK7 NOP53 MGMT ERCC6
2 response to drug GO:0042493 9.84 SOD1 SNCA MGMT MDK
3 response to oxidative stress GO:0006979 9.77 SOD1 LRRK2 ERCC6
4 regulation of autophagy GO:0010506 9.69 MAPT LRRK2 C9orf72
5 protein tetramerization GO:0051262 9.61 TRPM7 SNCA
6 regulation of neuron death GO:1901214 9.61 SNCA LRRK2
7 synapse organization GO:0050808 9.61 SNCB SNCA MAPT
8 stress granule assembly GO:0034063 9.6 MAPT C9orf72
9 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.58 PARK7 LRRK2
10 positive regulation of superoxide anion generation GO:0032930 9.58 SOD1 MAPT
11 synaptic transmission, dopaminergic GO:0001963 9.57 SNCA PARK7
12 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.56 PARK7 LRRK2
13 negative regulation of neuron death GO:1901215 9.56 SNCA PARK7 MDK LRRK2
14 dopamine metabolic process GO:0042417 9.55 SNCB SNCA
15 negative regulation of neuron apoptotic process GO:0043524 9.55 SOD1 SNCB SNCA PARK7 MDK
16 supramolecular fiber organization GO:0097435 9.52 SNCA MAPT
17 regulation of mitochondrial fission GO:0090140 9.49 MAPT LRRK2
18 intracellular distribution of mitochondria GO:0048312 9.48 MAPT LRRK2
19 regulation of locomotion GO:0040012 9.46 SNCA LRRK2
20 dopamine uptake involved in synaptic transmission GO:0051583 9.4 SNCA PARK7
21 response to superoxide GO:0000303 9.37 SOD1 ERCC6
22 cellular response to oxidative stress GO:0034599 9.35 SOD1 SNCA PARK7 MGMT LRRK2
23 positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway GO:1902177 9.32 SOD1 PARK7
24 negative regulation of protein phosphorylation GO:0001933 9.02 TARDBP SNCA PARK7 LRRK2 C9orf72

Molecular functions related to Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.67 SOD1 SNCA PARK7 MAPT
2 actin binding GO:0003779 9.62 TRPM7 SNCA MAPT LRRK2
3 identical protein binding GO:0042802 9.56 TARDBP SOD1 SNCA PARK7 NOP53 MAPT
4 double-stranded DNA binding GO:0003690 9.43 TARDBP PARK7 MAPT
5 copper ion binding GO:0005507 9.33 SOD1 SNCA PARK7
6 cuprous ion binding GO:1903136 8.8 SNCB SNCA PARK7

Sources for Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 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
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43 MeSH
44 MESH via Orphanet
45 MGI
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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
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